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

5 papers

NM_000222.3

p.T96M

c.287C>T

Surrounding Variants

2 papers

NM_000222.3

p.T96K

c.287C>A

2 papers

NM_000222.3

p.T96P

c.286A>C

1 paper

NM_000222.3

p.T96A

c.286A>G

1 paper

NM_000222.3

p.Y95*

c.285C>A

1 paper

NM_000222.3

p.Y95*

c.285C>G

2 papers

NM_000222.3

p.Y95Y

c.285C>T

1 paper

NM_000222.3

p.C97S

c.289T>A

1 paper

NM_000222.3

p.Y95C

c.284A>G

1 paper

NM_000222.3

p.C97S

c.290G>C

1 paper

NM_000222.3

p.C97F

c.290G>T

1 paper

NM_000222.3

p.Y95H

c.283T>C

1 paper

NM_000222.3

p.Y95delFs

c.284delA