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.G534C

c.1600G>T

Surrounding Variants

2 papers

NM_000222.3

p.G534S

c.1600G>A

1 paper

NM_000222.3

p.G534D

c.1601G>A

3 papers

NM_000222.3

p.G534V

c.1601G>T

35 papers

NM_000222.3

p.A533D

c.1598C>A

2 papers

NM_000222.3

p.A533V

c.1598C>T

1 paper

NM_000222.3

p.A533delFs

c.1599delT

1 paper

NM_000222.3

p.M535V

c.1603A>G

1 paper

NM_000222.3

p.A533T

c.1597G>A

3 papers

NM_000222.3

p.M535T

c.1604T>C

4 papers

NM_000222.3

p.M535I

c.1605G>A

4 papers

NM_000222.3

p.M535I

c.1605G>C

4 papers

NM_000222.3

p.M535I

c.1605G>T