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.V13_L14ins1

c.39_40insGGC

Surrounding Variants

1 paper

NM_000222.3

p.L14_L16del3

c.40_47del9

1 paper

NM_000222.3

p.L14fs

c.40_41fs

1 paper

NM_000222.3

p.L14V

c.40C>G

1 paper

NM_000222.3

p.V13delins

c.38_39delinsAA

1 paper

NM_000222.3

p.V13delins

c.38_39delinsAG

4 papers

NM_000222.3

p.V13I

c.37G>A

6 papers

NM_000222.3

p.V13L

c.37G>C

5 papers

NM_000222.3

p.V13F

c.37G>T

1 paper

NM_000222.3

p.V13delins

c.38_39delinsTT

12 papers

NM_000222.3

p.L14Q

c.41T>A

1 paper

NM_000222.3

p.L14P

c.41T>C

2 papers

NM_000222.3

p.L14R

c.41T>G