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.R2I

c.5G>T

Surrounding Variants

1 paper

NM_000222.3

p.R2K

c.5G>A

1 paper

NM_000222.3

p.R2insFs

c.5_6insA

2 papers

NM_000222.3

p.G3insFs

c.8dupG

1 paper

NM_000222.3

p.R2insFs

c.4_5insT

2 papers

NM_000222.3

p.R2G

c.4A>G

1 paper

NM_000222.3

p.G3delFs

c.7delG

4 papers

NM_000222.3

p.M1I

c.3G>A

2 papers

NM_000222.3

p.G3Fs

c.7delinsACATCTTTAFs

2 papers

NM_000222.3

p.M1I

c.3G>C

1 paper

NM_000222.3

p.M1_R2insFs

c.3_4insA

2 papers

NM_000222.3

p.M1_R2insFs

c.3_4insT

4 papers

NM_000222.3

p.M1I

c.3G>T