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.S217F

c.650C>T

Surrounding Variants

2 papers

NM_000222.3

p.S217Y

c.650C>A

2 papers

NM_000222.3

p.S217P

c.649T>C

1 paper

NM_000222.3

p.K218E

c.652A>G

1 paper

NM_000222.3

p.K218T

c.653A>C

1 paper

NM_000222.3

p.V216G

c.647T>G

1 paper

NM_000222.3

p.K218N

c.654A>C

2 papers

NM_000222.3

p.K218N

c.654A>T

1 paper

NM_000222.3

p.A219delFs

c.655_656delGC

2 papers

NM_000222.3

p.V216M

c.646G>A

2 papers

NM_000222.3

p.V216L

c.646G>C

2 papers

NM_000222.3

p.V216L

c.646G>T

1 paper

NM_000222.3

p.A219T

c.655G>A