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.N463H

c.1387A>C

Surrounding Variants

1 paper

NM_000222.3

p.N463T

c.1388A>C

6 papers

NM_000222.3

p.N463S

c.1388A>G

1 paper

NM_000222.3

p.S464_S477delFs

c.1390_1429del40

1 paper

NM_000222.3

p.L462P

c.1385T>C

5 papers

NM_000222.3

p.T461T

c.1383A>G

1 paper

NM_000222.3

p.S464*

c.1391C>A

1 paper

NM_000222.3

p.S464*

c.1391C>G

6 papers

NM_000222.3

p.S464L

c.1391C>T

1 paper

NM_000222.3

p.S464_P467delFs

c.1392_1401del10

1 paper

NM_000222.3

p.S464S

c.1392A>G

1 paper

NM_000222.3

p.T461fs

c.1381_1382fs

2 papers

NM_000222.3

p.S465C

c.1394C>G