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.Q575_L576ins10

c.1725_1726ins30

Surrounding Variants

1 paper

NM_000222.3

p.L576insFs

c.1726_1727insC

1 paper

NM_000222.3

p.L576_P577ins0

c.1726_1731dup6

1 paper

NM_000222.3

p.L576_H580ins1

c.1727_1738dup12

1 paper

NM_000222.3

p.L576_P585ins3

c.1726_1755dup30

3 papers

NM_000222.3

p.L576_L589ins4

c.1728_1766dup39

5 papers

NM_000222.3

p.Q575H

c.1725A>C

5 papers

NM_000222.3

p.Q575H

c.1725A>T

18 papers

NM_000222.3

p.L576_P577del1

c.1727_1729delTTC

1 paper

NM_000222.3

p.L576_P577del2

c.1726_1730del6

2 papers

NM_000222.3

p.Q575P

c.1724A>C

1 paper

NM_000222.3

p.Q575L

c.1724A>T

2 papers

NM_000222.3

p.Q575_P577del0

c.1725_1730del6