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.F229C

c.686T>G

Surrounding Variants

3 papers

NM_000222.3

p.F229L

c.687C>A

3 papers

NM_000222.3

p.F229L

c.687C>G

3 papers

NM_000222.3

p.F229L

c.685T>C

1 paper

NM_000222.3

p.E228D

c.684A>C

1 paper

NM_000222.3

p.E228D

c.684A>T

1 paper

NM_000222.3

p.T230S

c.688A>T

1 paper

NM_000222.3

p.T230K

c.689C>A

1 paper

NM_000222.3

p.T230T

c.690A>T

1 paper

NM_000222.3

p.V231_T234delFs

c.691_701del11

5 papers

NM_000222.3

p.E228K

c.682G>A

2 papers

NM_000222.3

p.E228*

c.682G>T

1 paper

NM_000222.3

p.E227D

c.681A>C