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.R49S

c.145C>A

Surrounding Variants

8 papers

NM_000222.3

p.R49C

c.145C>T

1 paper

NM_000222.3

p.V48V

c.144C>T

8 papers

NM_000222.3

p.R49H

c.146G>A

3 papers

NM_000222.3

p.R49P

c.146G>C

2 papers

NM_000222.3

p.R49L

c.146G>T

1 paper

NM_000222.3

p.R49R

c.147C>T

1 paper

NM_000222.3

p.V48A

c.143T>C

13 papers

NM_000222.3

p.V50M

c.148G>A

4 papers

NM_000222.3

p.V48I

c.142G>A

13 papers

NM_000222.3

p.V50L

c.148G>C

1 paper

NM_000222.3

p.V48L

c.142G>C

1 paper

NM_000222.3

p.V48_R49insTGG

c.142_146ins9