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.H101H

c.303C>T

Surrounding Variants

1 paper

NM_000222.3

p.H101Q

c.303C>A

1 paper

NM_000222.3

p.G102_Y108insFs

c.304_323dup20

1 paper

NM_000222.3

p.H101Q

c.303C>G

2 papers

NM_000222.3

p.H101R

c.302A>G

2 papers

NM_000222.3

p.H101L

c.302A>T

4 papers

NM_000222.3

p.G102S

c.304G>A

1 paper

NM_000222.3

p.G102_L103insG

c.304_308ins3

2 papers

NM_000222.3

p.G102C

c.304G>T

1 paper

NM_000222.3

p.H101N

c.301C>A

3 papers

NM_000222.3

p.H101Y

c.301C>T

1 paper

NM_000222.3

p.G102D

c.305G>A

1 paper

NM_000222.3

p.G102delFs

c.306delC