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.I371F

c.1111A>T

Surrounding Variants

1 paper

NM_000222.3

p.I371V

c.1111A>G

1 paper

NM_000222.3

p.I371S

c.1112T>G

1 paper

NM_000222.3

p.N370T

c.1109A>C

3 papers

NM_000222.3

p.N370S

c.1109A>G

1 paper

NM_000222.3

p.N370I

c.1109A>T

1 paper

NM_000222.3

p.I371M

c.1113C>G

1 paper

NM_000222.3

p.N370_I371ins10

c.1108_1112ins30

2 papers

NM_000222.3

p.N370H

c.1108A>C

1 paper

NM_000222.3

p.R372R

c.1114A>C

1 paper

NM_000222.3

p.N370D

c.1108A>G

1 paper

NM_000222.3

p.R372*

c.1114A>T

1 paper

NM_000222.3

p.S369R

c.1107T>A