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

2 papers

NM_000222.3

p.I319V

c.955A>G

Surrounding Variants

1 paper

NM_000222.3

p.M318I

c.954G>A

1 paper

NM_000222.3

p.M318I

c.954G>C

1 paper

NM_000222.3

p.M318I

c.954G>T

1 paper

NM_000222.3

p.I319M

c.957A>G

1 paper

NM_000222.3

p.I319_T322delins

c.957_966delinsT

2 papers

NM_000222.3

p.M318K

c.953T>A

2 papers

NM_000222.3

p.M318T

c.953T>C

2 papers

NM_000222.3

p.M318L

c.952A>C

1 paper

NM_000222.3

p.N320H

c.958A>C

7 papers

NM_000222.3

p.M318V

c.952A>G

1 paper

NM_000222.3

p.N320D

c.958A>G

2 papers

NM_000222.3

p.M318L

c.952A>T