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.D9G

c.26A>G

Surrounding Variants

4 papers

NM_000222.3

p.F10insFs

c.30dupT

2 papers

NM_000222.3

p.F10delFs

c.28delT

1 paper

NM_000222.3

p.D9N

c.25G>A

1 paper

NM_000222.3

p.D9Y

c.25G>T

1 paper

NM_000222.3

p.D9_F10ins1

c.27_28insGTA

1 paper

NM_000222.3

p.F10_L11delFs

c.29_32del4

1 paper

NM_000222.3

p.W8C

c.24G>C

1 paper

NM_000222.3

p.W8C

c.24G>T

1 paper

NM_000222.3

p.W8*

c.23G>A

1 paper

NM_000222.3

p.W8S

c.23G>C

1 paper

NM_000222.3

p.W8L

c.23G>T

2 papers

NM_000222.3

p.F10S

c.29T>C