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.E69Q

c.205G>C

Surrounding Variants

2 papers

NM_000222.3

p.E69K

c.205G>A

1 paper

NM_000222.3

p.E69A

c.206A>C

2 papers

NM_000222.3

p.E69G

c.206A>G

1 paper

NM_000222.3

p.E69V

c.206A>T

1 paper

NM_000222.3

p.F68L

c.204T>A

1 paper

NM_000222.3

p.E69delFs

c.205delG

3 papers

NM_000222.3

p.E69D

c.207G>C

3 papers

NM_000222.3

p.E69D

c.207G>T

2 papers

NM_000222.3

p.F68S

c.203T>C

1 paper

NM_000222.3

p.I70V

c.208A>G

2 papers

NM_000222.3

p.I70F

c.208A>T

1 paper

NM_000222.3

p.L71delFs

c.211delC