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.I54V

c.160A>G

Surrounding Variants

1 paper

NM_000222.3

p.E53E

c.159G>A

2 papers

NM_000222.3

p.E53D

c.159G>C

2 papers

NM_000222.3

p.E53D

c.159G>T

1 paper

NM_000222.3

p.I54N

c.161T>A

1 paper

NM_000222.3

p.I54T

c.161T>C

1 paper

NM_000222.3

p.E53A

c.158A>C

3 papers

NM_000222.3

p.E53G

c.158A>G

1 paper

NM_000222.3

p.I54M

c.162T>G

2 papers

NM_000222.3

p.R55G

c.163A>G

2 papers

NM_000222.3

p.R55W

c.163A>T

12 papers

NM_000222.3

p.E53K

c.157G>A

2 papers

NM_000222.3

p.E53*

c.157G>T