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KIT G565V
GeneKIT
Variantmissense
Amino Acid ChangeG565V
Transcript ID (GRCh37/hg19)ENST00000288135
Codon565
Exon11
Genomic Coordinates (GRCh37/hg19)4:55593628-55593628
COSMIC ID144514
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
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KIT
Variants
KIT G565V
Primary Sites
Kidney
Lung
Colon
Thyroid
Tumor Types
Renal Cell Carcinoma
Adenocarcinoma
Papillary Carcinoma
Interpretation

KIT, also known as proto-oncogene c-Kit or tyrosine-protein kinase Kit or CD117, is a growth factor receptor of the tyrosine kinase subclass III family, normally expressed in a variety of tissue types. Signaling through CD117 plays a role in cell survival, proliferation, and differentiation. Altered forms of this receptor may be associated with many types of cancers including hematopoietic malignancies, gastrointestinal stromal tumors, and various carcinomas and sarcomas. KIT G565V lies within the cytoplasmic domain of the Kit protein; this variant has been documented in the scientific literature (in melanoma). While its effect on Kit protein function is unknown, it is reported in ClinVar as likely benign germline variant (https://preview.ncbi.nlm.nih.gov/clinvar/variation/41600/).

Last updated: 2019-01-22 19:23:31 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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