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.K499fs

c.1495_1496fs

Surrounding Variants

1 paper

NM_000222.3

p.K499E

c.1495A>G

2 papers

NM_000222.3

p.G498D

c.1493G>A

2 papers

NM_000222.3

p.K499K

c.1497G>A

2 papers

NM_000222.3

p.K499N

c.1497G>C

2 papers

NM_000222.3

p.K499N

c.1497G>T

1 paper

NM_000222.3

p.G498V

c.1493G>T

1 paper

NM_000222.3

p.T500A

c.1498A>G

1 paper

NM_000222.3

p.T500S

c.1498A>T

5 papers

NM_000222.3

p.G498S

c.1492G>A

1 paper

NM_000222.3

p.G498R

c.1492G>C

1 paper

NM_000222.3

p.T500S

c.1499C>G

1 paper

NM_000222.3

p.T500_S501ins2

c.1500_1501ins6