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

2 papers

NM_000222.3

p.T245T

c.735G>A

Surrounding Variants

6 papers

NM_000222.3

p.T245M

c.734C>T

2 papers

NM_000222.3

p.T245A

c.733A>G

2 papers

NM_000222.3

p.W246*

c.737G>A

1 paper

NM_000222.3

p.S244_T245insFs

c.732_733insG

2 papers

NM_000222.3

p.W246*

c.738G>A

1 paper

NM_000222.3

p.W246C

c.738G>C

1 paper

NM_000222.3

p.W246C

c.738G>T

1 paper

NM_000222.3

p.K247E

c.739A>G

2 papers

NM_000222.3

p.S244*

c.731C>A

2 papers

NM_000222.3

p.S244*

c.731C>G

2 papers

NM_000222.3

p.S244L

c.731C>T

1 paper

NM_000222.3

p.S244P

c.730T>C