Varaico: Literature-Extracted Genetic Variants

KIT

4,821 papers

RefSeq Summary

This gene encodes a receptor tyrosine kinase. This gene was initially identified as a homolog of the feline sarcoma viral oncogene v-kit and is often referred to as proto-oncogene c-Kit. The canonical...

Pfam Domains

igaa 219–304UCSCImmunoglobulin domain

Ig_PDGFR_d4aa 421–542UCSCPlatelet-derived growth factor receptor Ig-like domain 4

PK_Tyr_Ser-Thraa 590–924UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

KIT proto-oncogene, receptor tyrosine kinase

HGNC Previous Symbol

PBT

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000222.3

p.T488K

c.1463C>A

Surrounding Variants

5 papers

NM_000222.3

p.T488M

c.1463C>T

3 papers

NM_000222.3

p.T488T

c.1464G>A

3 papers

NM_000222.3

p.V489I

c.1465G>A

1 paper

NM_000222.3

p.G487D

c.1460G>A

1 paper

NM_000222.3

p.G487V

c.1460G>T

1 paper

NM_000222.3

p.G487delFs

c.1461delC

1 paper

NM_000222.3

p.V489A

c.1466T>C

2 papers

NM_000222.3

p.V489G

c.1466T>G

1 paper

NM_000222.3

p.E490_C491ins0

c.1468_1473dup6

1 paper

NM_000222.3

p.E490_K492insFs

c.1468_1475dup8

9 papers

NM_000222.3

p.E490K

c.1468G>A

1 paper

NM_000222.3

p.E490Q

c.1468G>C