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.D696E

c.2088T>G

Surrounding Variants

1 paper

NM_000222.3

p.D696E

c.2088T>A

1 paper

NM_000222.3

p.H697N

c.2089C>A

2 papers

NM_000222.3

p.H697D

c.2089C>G

19 papers

NM_000222.3

p.H697Y

c.2089C>T

1 paper

NM_000222.3

p.H697P

c.2090A>C

1 paper

NM_000222.3

p.D696N

c.2086G>A

1 paper

NM_000222.3

p.D696_N705del10

c.2086_2114del30

1 paper

NM_000222.3

p.E695A

c.2084A>C

1 paper

NM_000222.3

p.E695G

c.2084A>G

1 paper

NM_000222.3

p.E695V

c.2084A>T

1 paper

NM_000222.3

p.A698T

c.2092G>A

1 paper

NM_000222.3

p.A698G

c.2093C>G