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.P37Q

c.110C>A

Surrounding Variants

2 papers

NM_000222.3

p.P37R

c.110C>G

1 paper

NM_000222.3

p.P37L

c.110C>T

2 papers

NM_000222.3

p.P37A

c.109C>G

2 papers

NM_000222.3

p.P37S

c.109C>T

4 papers

NM_000222.3

p.H40_P41delFs

c.120_123del4

1 paper

NM_000222.3

p.S38T

c.112T>A

2 papers

NM_000222.3

p.P36Q

c.107C>A

1 paper

NM_000222.3

p.S38Y

c.113C>A

1 paper

NM_000222.3

p.P36insFs

c.108dupA

1 paper

NM_000222.3

p.P36R

c.107C>G

6 papers

NM_000222.3

p.P36L

c.107C>T

2 papers

NM_000222.3

p.S38F

c.113C>T