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.G565delFs

c.1694delG

Surrounding Variants

2 papers

NM_000222.3

p.G565del1

c.1693_1694delGGA

1 paper

NM_000222.3

p.G565_I571del0

c.1693_1713del21

1 paper

NM_000222.3

p.G565_D572del0

c.1693_1716del24

1 paper

NM_000222.3

p.G565_T574delFs

c.1693_1720del28

6 papers

NM_000222.3

p.N564S

c.1691A>G

1 paper

NM_000222.3

p.N564_G565delins

c.1692_1693delinsTG

1 paper

NM_000222.3

p.N564_D572delins

c.1691_1714delinsGTT

1 paper

NM_000222.3

p.G565_L576del0

c.1693_1728del36

13 papers

NM_000222.3

p.G565R

c.1693G>A

13 papers

NM_000222.3

p.G565R

c.1693G>C

1 paper

NM_000222.3

p.N564_G565delins

c.1692_1693delinsTT

1 paper

NM_000222.3

p.G565_P573del0

c.1694_1717del24