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.L16L

c.48A>T

Surrounding Variants

1 paper

NM_000222.3

p.L16_L17ins1

c.48_49insTGG

1 paper

NM_000222.3

p.L17insFs

c.50_51insT

1 paper

NM_000222.3

p.L17V

c.49C>G

1 paper

NM_000222.3

p.L16P

c.47T>C

2 papers

NM_000222.3

p.L17P

c.50T>C

1 paper

NM_000222.3

p.L17insFs

c.50_51insA

1 paper

NM_000222.3

p.L17L

c.51G>C

1 paper

NM_000222.3

p.L18del1

c.52_53delCTT

1 paper

NM_000222.3

p.L18_R19insFs

c.54_55insT

1 paper

NM_000222.3

p.L18V

c.52C>G

2 papers

NM_000222.3

p.L18F

c.52C>T

1 paper

NM_000222.3

p.L18delFs

c.53delT