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.G676_D677del2

c.2026_2030del6

Surrounding Variants

1 paper

NM_000222.3

p.Y675H

c.2023T>C

3 papers

NM_000222.3

p.Y675S

c.2024A>C

2 papers

NM_000222.3

p.Y675C

c.2024A>G

1 paper

NM_000222.3

p.C674*

c.2022C>A

1 paper

NM_000222.3

p.Y675_N680delFs

c.2023_2039del17

3 papers

NM_000222.3

p.C674Y

c.2021G>A

1 paper

NM_000222.3

p.Y675*

c.2025T>A

1 paper

NM_000222.3

p.Y675*

c.2025T>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

1 paper

NM_000222.3

p.C674S

c.2020T>A