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.I539V

c.1615A>G

Surrounding Variants

1 paper

NM_000222.3

p.I539N

c.1616T>A

1 paper

NM_000222.3

p.I538V

c.1612A>G

9 papers

NM_000222.3

p.V540L

c.1618G>C

9 papers

NM_000222.3

p.V540L

c.1618G>T

1 paper

NM_000222.3

p.V540A

c.1619T>C

1 paper

NM_000222.3

p.C537S

c.1610G>C

1 paper

NM_000222.3

p.C537_I539del0

c.1611_1616del6

272 papers

NM_000222.3

p.M541L

c.1621A>C

2 papers

NM_000222.3

p.M541V

c.1621A>G

254 papers

NM_000222.3

p.M541L

c.1621A>T

1 paper

NM_000222.3

p.C537S

c.1609T>A

1 paper

NM_000222.3

p.M536I

c.1608G>A