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.Y350H

c.1048T>C

Surrounding Variants

1 paper

NM_000222.3

p.Y350C

c.1049A>G

1 paper

NM_000222.3

p.I349T

c.1046T>C

1 paper

NM_000222.3

p.I349delFs

c.1047delC

1 paper

NM_000222.3

p.M351L

c.1051A>C

2 papers

NM_000222.3

p.M351V

c.1051A>G

1 paper

NM_000222.3

p.I349V

c.1045A>G

1 paper

NM_000222.3

p.I349F

c.1045A>T

1 paper

NM_000222.3

p.M351L

c.1051A>T

2 papers

NM_000222.3

p.W348*

c.1044G>A

3 papers

NM_000222.3

p.W348C

c.1044G>C

3 papers

NM_000222.3

p.W348C

c.1044G>T

1 paper

NM_000222.3

p.M351K

c.1052T>A