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.T666_T670del5

c.1996_2009del15

Surrounding Variants

4 papers

NM_000222.3

p.P665L

c.1994C>T

1 paper

NM_000222.3

p.P665T

c.1993C>A

4 papers

NM_000222.3

p.T666I

c.1997C>T

3 papers

NM_000222.3

p.P665S

c.1993C>T

2 papers

NM_000222.3

p.L667R

c.2000T>G

1 paper

NM_000222.3

p.G664Splc

c.1991-2A>G

1 paper

NM_000222.3

p.V668I

c.2002G>A

2 papers

NM_000222.3

p.V668A

c.2003T>C

1 paper

NM_000222.3

p.T670P

c.2008A>C

3 papers

NM_000222.3

p.T670A

c.2008A>G

3 papers

NM_000222.3

p.T670S

c.2008A>T

1 paper

NM_000222.3

p.T670delins

c.2008_2009delinsGA