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.P341T

c.1021C>A

Surrounding Variants

2 papers

NM_000222.3

p.P341S

c.1021C>T

1 paper

NM_000222.3

p.K342E

c.1024A>G

1 paper

NM_000222.3

p.K342insFs

c.1025_1026ins4

1 paper

NM_000222.3

p.K342T

c.1025A>C

1 paper

NM_000222.3

p.K342R

c.1025A>G

1 paper

NM_000222.3

p.K342I

c.1025A>T

1 paper

NM_000222.3

p.A339E

c.1016C>A

2 papers

NM_000222.3

p.A339V

c.1016C>T

1 paper

NM_000222.3

p.P343T

c.1027C>A

1 paper

NM_000222.3

p.P343S

c.1027C>T

1 paper

NM_000222.3

p.A339S

c.1015G>T

1 paper

NM_000222.3

p.P343H

c.1028C>A