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.T670P

c.2008A>C

Surrounding Variants

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

2 papers

NM_000222.3

p.T670K

c.2009C>A

1 paper

NM_000222.3

p.T670R

c.2009C>G

271 papers

NM_000222.3

p.T670I

c.2009C>T

1 paper

NM_000222.3

p.E671K

c.2011G>A

2 papers

NM_000222.3

p.E671D

c.2013A>C

2 papers

NM_000222.3

p.E671D

c.2013A>T

2 papers

NM_000222.3

p.V668A

c.2003T>C

1 paper

NM_000222.3

p.V668I

c.2002G>A

1 paper

NM_000222.3

p.Y672_C673insA

c.2014_2018ins3