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.A339S

c.1015G>T

Surrounding Variants

1 paper

NM_000222.3

p.A339E

c.1016C>A

2 papers

NM_000222.3

p.A339V

c.1016C>T

6 papers

NM_000222.3

p.E338K

c.1012G>A

1 paper

NM_000222.3

p.E338insFs

c.1013_1014ins5

1 paper

NM_000222.3

p.Y337C

c.1010A>G

1 paper

NM_000222.3

p.P341T

c.1021C>A

2 papers

NM_000222.3

p.P341S

c.1021C>T

1 paper

NM_000222.3

p.Y337_E338delFs

c.1011_1014del4

1 paper

NM_000222.3

p.E336D

c.1008A>C

1 paper

NM_000222.3

p.E336D

c.1008A>T

1 paper

NM_000222.3

p.E336V

c.1007A>T

1 paper

NM_000222.3

p.K342E

c.1024A>G