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.F68S

c.203T>C

Surrounding Variants

1 paper

NM_000222.3

p.F68L

c.204T>A

1 paper

NM_000222.3

p.E69delFs

c.205delG

2 papers

NM_000222.3

p.E69K

c.205G>A

1 paper

NM_000222.3

p.E69Q

c.205G>C

1 paper

NM_000222.3

p.F68_L71del4

c.202_212del12

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

6 papers

NM_000222.3

p.T67S

c.200C>G

3 papers

NM_000222.3

p.T67I

c.200C>T

1 paper

NM_000222.3

p.T67_F68insCC

c.199_203ins6

1 paper

NM_000222.3

p.T67A

c.199A>G