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.T321S

c.961A>T

Surrounding Variants

1 paper

NM_000222.3

p.T321A

c.961A>G

1 paper

NM_000222.3

p.T321N

c.962C>A

2 papers

NM_000222.3

p.N320_T321insFs

c.960_961ins4

1 paper

NM_000222.3

p.N320_T321insFs

c.960_961ins4

1 paper

NM_000222.3

p.N320_T321insFs

c.960_961ins4

1 paper

NM_000222.3

p.N320_T321insFs

c.960_961ins4

1 paper

NM_000222.3

p.N320_T321insFs

c.960_961ins4

2 papers

NM_000222.3

p.T321S

c.962C>G

1 paper

NM_000222.3

p.N320S

c.959A>G

2 papers

NM_000222.3

p.T321T

c.963T>A

1 paper

NM_000222.3

p.N320H

c.958A>C

1 paper

NM_000222.3

p.N320D

c.958A>G