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.N512_K513del1

c.1536_1538delCAA

Surrounding Variants

1 paper

NM_000222.3

p.G510insFs

c.1530dupT

2 papers

NM_000222.3

p.G510V

c.1529G>T

1 paper

NM_000222.3

p.G510S

c.1528G>A

2 papers

NM_000222.3

p.G510C

c.1528G>T

2 papers

NM_000222.3

p.K509N

c.1527A>C

2 papers

NM_000222.3

p.K509N

c.1527A>T

3 papers

NM_000222.3

p.G510del1

c.1528_1529delGGT

1 paper

NM_000222.3

p.K509T

c.1526A>C

1 paper

NM_000222.3

p.N512H

c.1534A>C

2 papers

NM_000222.3

p.K509R

c.1526A>G

2 papers

NM_000222.3

p.N512D

c.1534A>G

86 papers

NM_000222.3

p.K509I

c.1526A>T