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

3 papers

NM_000222.3

p.P41L

c.122C>T

Surrounding Variants

1 paper

NM_000222.3

p.P41Q

c.122C>A

1 paper

NM_000222.3

p.P41P

c.123A>T

1 paper

NM_000222.3

p.G42delFs

c.124delG

1 paper

NM_000222.3

p.G42delFs

c.124_125delGG

3 papers

NM_000222.3

p.P41T

c.121C>A

1 paper

NM_000222.3

p.P41A

c.121C>G

4 papers

NM_000222.3

p.P41S

c.121C>T

1 paper

NM_000222.3

p.P41fs

c.121_122fs

3 papers

NM_000222.3

p.G42R

c.124G>A

3 papers

NM_000222.3

p.G42R

c.124G>C

5 papers

NM_000222.3

p.H40Q

c.120T>A

6 papers

NM_000222.3

p.H40Q

c.120T>G