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.R19S

c.55C>A

Surrounding Variants

1 paper

NM_000222.3

p.R19G

c.55C>G

6 papers

NM_000222.3

p.R19C

c.55C>T

3 papers

NM_000222.3

p.R19H

c.56G>A

1 paper

NM_000222.3

p.R19L

c.56G>T

1 paper

NM_000222.3

p.L18L

c.54T>A

2 papers

NM_000222.3

p.L18P

c.53T>C

1 paper

NM_000222.3

p.L18_R19insFs

c.54_55insT

1 paper

NM_000222.3

p.L18V

c.52C>G

2 papers

NM_000222.3

p.L18F

c.52C>T

1 paper

NM_000222.3

p.L18delFs

c.53delT

1 paper

NM_000222.3

p.V20I

c.58G>A

1 paper

NM_000222.3

p.V20L

c.58G>C