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

4 papers

NM_000222.3

p.S106F

c.317C>T

Surrounding Variants

1 paper

NM_000222.3

p.S106C

c.317C>G

1 paper

NM_000222.3

p.S106A

c.316T>G

1 paper

NM_000222.3

p.I107L

c.319A>C

1 paper

NM_000222.3

p.I107V

c.319A>G

1 paper

NM_000222.3

p.I107F

c.319A>T

6 papers

NM_000222.3

p.N105K

c.315T>A

1 paper

NM_000222.3

p.N105insFs

c.314_315insG

1 paper

NM_000222.3

p.N105S

c.314A>G

1 paper

NM_000222.3

p.N105_S106delFs

c.315_318del4

1 paper

NM_000222.3

p.I107T

c.320T>C

1 paper

NM_000222.3

p.N105Y

c.313A>T

1 paper

NM_000222.3

p.I107I

c.321T>A