GeneGlobe ID: SMH-3009AA | Cat. No.: 337021 | qBiomarker Somatic Mutation PCR Arrays
qBiomarker™ Somatic Mutation PCR Array Human Receptor Tyrosine Kinase Signaling 384HC
Product Specification
PCR plate and master mix
Target List
ABL1
The mutations queried by these assays mostly lie in the protein kinase domain.
AKT1
The best known AKT1 mutations are c.49G>A, p.E17K, a PH domain mutation that results in constitutive targeting of AKT1 to plasma membrane, and an activating mutation, c.145G>A, p.E49K.
ALK
The most frequently observed gain-of-function ALK mutations occur in the protein’s tyrosine kinase domain from amino acids 1116 to 1383.
BRAF
Common point mutations in BRAF either increase kinase activity, such as L597V, L597Q and V600E, or inhibit kinase activity, such as G464V, G466V and G469A.
CBL
The most frequently occurring mutations in this gene reside in its RING-type, or zinc finger-like, domain in an Asp/Glu-rich (acidic) region likely involved in its ubiquitination activity. Other mutations include p.R420Q and p.K382E, which impair CBL-mediated degradation of cell-surface receptors in a dominant-negative fashion, and p.Y371H, which should reduce tyrosine phosphorylation by the insulin receptor.
CRLF2
This novel gain-of-function mutation synergizes with JAK2 R683 mutations to confer cytokine-independent growth to BaF3 pro-B cells.
CSF1R
This mutation near the C-terminus that corresponds to SNP variant rs1801271 abolishes the down-regulation of activated CSF1R.
CTNNB1
The most frequently detected CTNNB1 mutations result in abnormal WNT signaling activity. The mutated codons are mainly several serines and threonines targeted for phosphorylation by GSK3B.
EGFR
These assays detect the most frequently identified EGFR mutations, which include P-loop and activation loop point mutations, kinase domain deletions, and insertion mutations.
ERBB2
The most frequently identified activating ERBB2 mutations cluster in its kinase domain.
FBXW7
These mutation assays detect FBXW7 variants in either the third or the fourth repeat of the protein's WD40 domain, which is involved in protein-protein interactions.
FGFR2, FGFR3
The most frequently identified FGFR mutations occur in their kinase domains and non-kinase extracellular domains such as the hinge regions and IgG-like domains. Some of the somatic mutations also correspond to congenital SNPs involved in genetic diseases.
FLT3
The most frequently identified FLT3 variants include point mutations, insertions and deletions in the juxtamembrane and activation loop domains of the protein.
GNAQ
The mutations queried by these assays all lie in the protein's GTP nucleotide binding domain.
GNAS
Mutations in this gene result in pseudohypoparathyroidism type 1a (PHP1a), which has an atypical autosomal dominant inheritance pattern requiring maternal transmission for full penetrance.
HRAS
The mutation assays detect the most important HRAS variants, all found in codons 12, 13, and 61.
JAK2
Most of these mutations lie in protein kinase domain 1. One mutation (p.V615F) confers cytokine-independent growth to BaF3 pro-B cells. Mutations at R683 lead to constitutive tyrosine phosphorylation activity promoting cytokine hypersensitivity and are associated with susceptibility to Budd-Chiari syndrome.
KIT
The most frequently identified KIT gain-of-function mutations include the D816V point mutation; point mutations in, and a deletion of, exon 11 (the juxtamembrane domain); an exon 9 insertion; as well as exon 13 point mutations.
KRAS
The mutation assays detect the most frequently occurring KRAS mutations in codons 12, 13, and 61. Mutations at these positions reduce the protein’s intrinsic GTPase activity and/or cause it to become unresponsive to RasGAP.
MAP2K1
The most important MAP2K1 variants cluster in the protein’s N-terminal negative regulatory domain and an adjacent domain, and they all activate the protein by increasing its intrinsic kinase activity.
MET
The most frequently identified MET gain-of-function point mutations lie in its tyrosine kinase and juxtamembrane domains.
NOTCH1
Most of the represented mutations lie in the NOTCH1 protein's predicted cytoplasmic domains.
NOTCH2
The most frequently observed NOTCH2 truncation mutation is R2400*.
NRAS
The mutation assays detect the most important NRAS variants, all found in codons 12, 13, and 61.
PDGFRA
The most frequently identified PDGFRA gain-of-function variants include deletions, insertions, and point mutations in the regions of p.D842-S847 and p.R554-E571 as well as the specific point mutations p.N659Y and p.T674I.
PIK3CA
The most frequently detected PIK3CA gain-of-function mutations occur either in the kinase domain (T1025-G1049, such as H1047L and H1047R) that increase its activity or in the helical domain (P539-E545) which mimic activation by growth factors.
PTCH1
The detected PTCH1 mutations constitutively activate the Hedgehog signaling pathway and the GLI transcription factors, which increases gene expression involved in tumor cell growth, differentiation, and proliferation.
PTEN
The most commonly detected PTEN loss-of-function mutations either truncate the protein (such as K6fs*4, R130*, R130fs*4, R233*, P248fs*5, and V317fs*3) or cause phosphatase inactivation (such as those at R130 and R173).
PTPN11
The most frequently identified PTPN11 variants include mutations in or near the N-terminal SH2 domain and PTP-interacting surface as well as mutations that affect substrate specificity.
RET
The mutations p.E768D, p.A883F, and p.M918T lie in the protein kinase domain and soluble RET kinase fragment. Most of the remaining mutations lie in predicted extracellular domains.
SRC
SRC is a proto-oncogene and a tyrosine-protein kinase that plays a role in the regulation of embryonic development and cell growth. Mutations in this gene could be involved in the malignant progression of colon cancer.
STK11
The most commonly detected STK11 inactivation variants either are point mutations or truncate the protein.
TP53
The most frequently detected somatic TP53 mutations occur in the DNA-binding domain which disrupt DNA binding and/or protein structure.
Product Resources
File Size: 187.74 KBLanguage: English
Resources
Supplementary Protocols (7)
Download Files (1)
Safety Data Sheets (1)
Instrument Technical Documents (2)
Performance Data (3)
Kit Handbooks (1)
White Papers (1)
Articles (1)
Application Notes (1)
Certificates of Analysis (1)
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