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.V323I

c.967G>A

Surrounding Variants

3 papers

NM_000222.3

p.V323L

c.967G>C

3 papers

NM_000222.3

p.V323L

c.967G>T

1 paper

NM_000222.3

p.V323A

c.968T>C

1 paper

NM_000222.3

p.T322K

c.965C>A

1 paper

NM_000222.3

p.T322I

c.965C>T

1 paper

NM_000222.3

p.T322A

c.964A>G

3 papers

NM_000222.3

p.T322S

c.964A>T

2 papers

NM_000222.3

p.T321T

c.963T>A

1 paper

NM_000222.3

p.T321N

c.962C>A

2 papers

NM_000222.3

p.T321S

c.962C>G

1 paper

NM_000222.3

p.T321A

c.961A>G

2 papers

NM_000222.3

p.T321S

c.961A>T