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.T22R

c.65C>G

Surrounding Variants

2 papers

NM_000222.3

p.T22I

c.65C>T

2 papers

NM_000222.3

p.T22A

c.64A>G

1 paper

NM_000222.3

p.G23S

c.67G>A

1 paper

NM_000222.3

p.Q21H

c.63G>C

1 paper

NM_000222.3

p.Q21H

c.63G>T

2 papers

NM_000222.3

p.Q21R

c.62A>G

2 papers

NM_000222.3

p.G23D

c.68G>A

1 paper

NM_000222.3

p.G23A

c.68G>C

4 papers

NM_000222.3

p.G23V

c.68G>T

1 paper

NM_000222.3

p.Q21K

c.61C>A

1 paper

NM_000222.3

p.Q21E

c.61C>G

9 papers

NM_000222.3

p.G23Splc

c.67+4G>A