Gene | KIT |
Variant | missense |
Amino Acid Change | D45N |
Transcript ID (GRCh37/hg19) | ENST00000288135 |
Codon(s) | 45 |
Exon(s) | 2 |
Genomic Coordinates (GRCh37/hg19) | 4:55561743-55561743 |
COSMIC ID | 4604281 |
Germline/Somatic? | Somatic |
Tumor | Tissue |
---|
ID | Tumor | Tissue | Variants | Tier | Interpretation |
---|---|---|---|---|---|
2260 | Glioblastoma | Brain | KIT D45N | 3 | 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. KIT is found in approximately 1% of glioblastomas. The KIT D45N variant is in the extracellular domain, however, its effect on protein function is unknown. The clinical significance of KIT in glioblastoma and the clinicopathologic effect of this variant remains to be further elucidated. |
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