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

4 papers

NM_000222.3

p.L678F

c.2032C>T

Surrounding Variants

1 paper

NM_000222.3

p.D677A

c.2030A>C

3 papers

NM_000222.3

p.D677N

c.2029G>A

1 paper

NM_000222.3

p.L679_N680insAG

c.2035_2039ins6

1 paper

NM_000222.3

p.G676G

c.2028T>A

1 paper

NM_000222.3

p.L679*

c.2036T>A

1 paper

NM_000222.3

p.L679F

c.2037G>C

1 paper

NM_000222.3

p.N680insFs

c.2039_2040insA

1 paper

NM_000222.3

p.L679F

c.2037G>T

1 paper

NM_000222.3

p.N680D

c.2038A>G

1 paper

NM_000222.3

p.G676R

c.2026G>C

1 paper

NM_000222.3

p.G676C

c.2026G>T

1 paper

NM_000222.3

p.G676fs

c.2026_2027fs