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.S44Fs

c.130delinsTTATCTCTATAGTAGTTFs

Surrounding Variants

1 paper

NM_000222.3

p.K43I

c.128A>T

2 papers

NM_000222.3

p.S44P

c.130T>C

1 paper

NM_000222.3

p.S44insFs

c.130_131insA

2 papers

NM_000222.3

p.K43E

c.127A>G

3 papers

NM_000222.3

p.S44L

c.131C>T

1 paper

NM_000222.3

p.S44delFs

c.132delA

1 paper

NM_000222.3

p.S44S

c.132A>T

2 papers

NM_000222.3

p.G42E

c.125G>A

2 papers

NM_000222.3

p.D45N

c.133G>A

1 paper

NM_000222.3

p.G42A

c.125G>C

2 papers

NM_000222.3

p.D45fs

c.133_134fs

2 papers

NM_000222.3

p.D45Y

c.133G>T