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.W853C

c.2559G>C

Surrounding Variants

4 papers

NM_000222.3

p.W853*

c.2559G>A

1 paper

NM_000222.3

p.W853C

c.2559G>T

5 papers

NM_000222.3

p.W853*

c.2558G>A

1 paper

NM_000222.3

p.W853L

c.2558G>T

2 papers

NM_000222.3

p.S854P

c.2560T>C

2 papers

NM_000222.3

p.S854F

c.2561C>T

1 paper

NM_000222.3

p.Y855N

c.2563T>A

1 paper

NM_000222.3

p.V852G

c.2555T>G

6 papers

NM_000222.3

p.V852I

c.2554G>A

3 papers

NM_000222.3

p.D851G

c.2552A>G

1 paper

NM_000222.3

p.G856E

c.2567G>A

1 paper

NM_000222.3

p.D851delFs

c.2552delA