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.K818K

c.2454G>A

Surrounding Variants

14 papers

NM_000222.3

p.K818R

c.2453A>G

6 papers

NM_000222.3

p.N819Y

c.2455A>T

1 paper

NM_000222.3

p.K818Q

c.2452A>C

2 papers

NM_000222.3

p.N819S

c.2456A>G

2 papers

NM_000222.3

p.N819I

c.2456A>T

1 paper

NM_000222.3

p.K818*

c.2452A>T

2 papers

NM_000222.3

p.I817M

c.2451C>G

1 paper

NM_000222.3

p.I817I

c.2451C>T

1 paper

NM_000222.3

p.N819K

c.2457T>A

2 papers

NM_000222.3

p.N819K

c.2457T>G

11 papers

NM_000222.3

p.D820N

c.2458G>A

17 papers

NM_000222.3

p.D820H

c.2458G>C