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

3 papers

NM_000222.3

p.A87V

c.260C>T

Surrounding Variants

1 paper

NM_000222.3

p.A87E

c.260C>A

1 paper

NM_000222.3

p.A87S

c.259G>T

3 papers

NM_000222.3

p.E88K

c.262G>A

1 paper

NM_000222.3

p.K86K

c.258G>A

1 paper

NM_000222.3

p.K86N

c.258G>C

1 paper

NM_000222.3

p.E88Q

c.262G>C

1 paper

NM_000222.3

p.K86N

c.258G>T

1 paper

NM_000222.3

p.E88*

c.262G>T

1 paper

NM_000222.3

p.K86R

c.257A>G

1 paper

NM_000222.3

p.E88G

c.263A>G

2 papers

NM_000222.3

p.K86M

c.257A>T

1 paper

NM_000222.3

p.E88D

c.264A>C