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

15 papers

NM_000222.3

p.S240N

c.719G>A

Surrounding Variants

10 papers

NM_000222.3

p.S240T

c.719G>C

1 paper

NM_000222.3

p.S241T

c.721T>A

2 papers

NM_000222.3

p.S241P

c.721T>C

5 papers

NM_000222.3

p.S241Y

c.722C>A

3 papers

NM_000222.3

p.S239C

c.716C>G

2 papers

NM_000222.3

p.S241C

c.722C>G

11 papers

NM_000222.3

p.S241F

c.722C>T

1 paper

NM_000222.3

p.S239F

c.716C>T

1 paper

NM_000222.3

p.S241delFs

c.723delT

1 paper

NM_000222.3

p.S239P

c.715T>C

1 paper

NM_000222.3

p.V242M

c.724G>A

1 paper

NM_000222.3

p.V242L

c.724G>C