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

4 papers

NM_000222.3

p.L637H

c.1910T>A

Surrounding Variants

2 papers

NM_000222.3

p.L637P

c.1910T>C

3 papers

NM_000222.3

p.L637F

c.1909C>T

1 paper

NM_000222.3

p.M638delFs

c.1912delA

1 paper

NM_000222.3

p.M638fs

c.1912_1913fs

5 papers

NM_000222.3

p.M638V

c.1912A>G

1 paper

NM_000222.3

p.A636A

c.1908C>A

1 paper

NM_000222.3

p.A636A

c.1908C>T

3 papers

NM_000222.3

p.A636V

c.1907C>T

1 paper

NM_000222.3

p.M638R

c.1913T>G

2 papers

NM_000222.3

p.A636T

c.1906G>A

1 paper

NM_000222.3

p.M638I

c.1914G>A

3 papers

NM_000222.3

p.M638I

c.1914G>C