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.C714Splc

c.2141+2T>A

Surrounding Variants

3 papers

NM_000222.3

p.C714Splc

c.2141+1G>A

1 paper

NM_000222.3

p.C714Y

c.2141G>A

3 papers

NM_000222.3

p.S713F

c.2138C>T

3 papers

NM_000222.3

p.S713delFs

c.2139delC

2 papers

NM_000222.3

p.S712F

c.2135C>T

1 paper

NM_000222.3

p.E711G

c.2132A>G

1 paper

NM_000222.3

p.E711delFs

c.2133delG

1 paper

NM_000222.3

p.E711K

c.2131G>A

1 paper

NM_000222.3

p.K710N

c.2130G>C

1 paper

NM_000222.3

p.K710N

c.2130G>T

4 papers

NM_000222.3

p.S709A

c.2125T>G

3 papers

NM_000222.3

p.H708L

c.2123A>T