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.L576V

c.1726C>G

Surrounding Variants

1 paper

NM_000222.3

p.L576_P577ins5

c.1726_1730ins15

1 paper

NM_000222.3

p.R586ins10

c.1756_1757ins30

1 paper

NM_000222.3

p.P577_F591ins5

c.1729_1773dup45

14 papers

NM_000222.3

p.L576F

c.1726C>T

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

1 paper

NM_000222.3

p.Q575_L576ins10

c.1725_1726ins30

5 papers

NM_000222.3

p.Q575H

c.1725A>C

5 papers

NM_000222.3

p.Q575H

c.1725A>T