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

2 papers

NM_000222.3

p.N80K

c.240T>G

Surrounding Variants

2 papers

NM_000222.3

p.N80K

c.240T>A

1 paper

NM_000222.3

p.N80S

c.239A>G

1 paper

NM_000222.3

p.N80I

c.239A>T

3 papers

NM_000222.3

p.E81K

c.241G>A

2 papers

NM_000222.3

p.E81*

c.241G>T

1 paper

NM_000222.3

p.N80H

c.238A>C

1 paper

NM_000222.3

p.N80D

c.238A>G

1 paper

NM_000222.3

p.E81G

c.242A>G

1 paper

NM_000222.3

p.N80Y

c.238A>T

1 paper

NM_000222.3

p.E81V

c.242A>T

1 paper

NM_000222.3

p.E81D

c.243A>C

1 paper

NM_000222.3

p.E81D

c.243A>T