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.C12R

c.34T>C

Surrounding Variants

4 papers

NM_000222.3

p.C12S

c.34T>A

1 paper

NM_000222.3

p.C12G

c.34T>G

1 paper

NM_000222.3

p.C12delFs

c.35delG

1 paper

NM_000222.3

p.L11_C12ins2

c.33_34ins6

2 papers

NM_000222.3

p.L11L

c.33C>T

21 papers

NM_000222.3

p.C12Y

c.35G>A

15 papers

NM_000222.3

p.C12S

c.35G>C

18 papers

NM_000222.3

p.C12F

c.35G>T

1 paper

NM_000222.3

p.C12delins

c.35_36delinsAG

1 paper

NM_000222.3

p.C12_V13ins1

c.36_37insGCG

1 paper

NM_000222.3

p.C12_V13ins1

c.36_37insGGT

2 papers

NM_000222.3

p.L11I

c.31C>A