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KIT C844Y
GeneKIT
Variantmissense
Amino Acid ChangeC844Y
Transcript ID (GRCh37/hg19)ENST00000288135
Codon844
Exon18
Genomic Coordinates (GRCh37/hg19)4:55602710-55602710
COSMIC ID133780
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
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Interpretations

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KIT
Variants
KIT C844Y
Primary Sites
Lung
Tumor Types
Adenocarcinoma
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 some types of cancers. Somatic mutations of KIT in lung adenocarcinoma are relatively rare, reported up to 3.3% of the cases. The predictive and prognostic significance of KIT mutations in lung adenocarcinomas needs further elucidation. According to ClinVar, the clinical significance of this particular variant C844Y is unknown (https://preview.ncbi.nlm.nih.gov/clinvar/variation/409781/). Results should be interpreted in conjunction with other laboratory and clinical findings.

Last updated: 2019-02-22 18:03:55 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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