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

9 papers

NM_000222.3

p.G601R

c.1801G>A

Surrounding Variants

8 papers

NM_000222.3

p.G601R

c.1801G>C

2 papers

NM_000222.3

p.G601W

c.1801G>T

1 paper

NM_000222.3

p.F600F

c.1800C>T

13 papers

NM_000222.3

p.F600Y

c.1799T>A

1 paper

NM_000222.3

p.F600C

c.1799T>G

1 paper

NM_000222.3

p.F600delins

c.1799_1800delinsAA

1 paper

NM_000222.3

p.F600delins

c.1799_1800delinsAT

1 paper

NM_000222.3

p.V603delFs

c.1807delG

1 paper

NM_000222.3

p.A599_F600ins1

c.1797_1798insACA

1 paper

NM_000222.3

p.F600_G601del2

c.1798_1802del6

1 paper

NM_000222.3

p.A599V

c.1796C>T

1 paper

NM_000222.3

p.A599T

c.1795G>A