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.L472L

c.1416A>T

Surrounding Variants

1 paper

NM_000222.3

p.L472L

c.1416A>G

1 paper

NM_000222.3

p.V473M

c.1417G>A

2 papers

NM_000222.3

p.L472P

c.1415T>C

1 paper

NM_000222.3

p.V473V

c.1419G>A

3 papers

NM_000222.3

p.V474I

c.1420G>A

1 paper

NM_000222.3

p.V474L

c.1420G>C

1 paper

NM_000222.3

p.V474A

c.1421T>C

1 paper

NM_000222.3

p.Q475*

c.1423C>T

1 paper

NM_000222.3

p.G470E

c.1409G>A

1 paper

NM_000222.3

p.G470V

c.1409G>T

3 papers

NM_000222.3

p.G470R

c.1408G>A

3 papers

NM_000222.3

p.G470R

c.1408G>C