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.P467L

c.1400C>T

Surrounding Variants

1 paper

NM_000222.3

p.P467Q

c.1400C>A

1 paper

NM_000222.3

p.P467T

c.1399C>A

2 papers

NM_000222.3

p.P467A

c.1399C>G

3 papers

NM_000222.3

p.P467S

c.1399C>T

1 paper

NM_000222.3

p.P468A

c.1402C>G

1 paper

NM_000222.3

p.G466G

c.1398G>T

6 papers

NM_000222.3

p.P468L

c.1403C>T

12 papers

NM_000222.3

p.G466E

c.1397G>A

7 papers

NM_000222.3

p.G466A

c.1397G>C

10 papers

NM_000222.3

p.G466V

c.1397G>T

5 papers

NM_000222.3

p.G466R

c.1396G>A

4 papers

NM_000222.3

p.G466R

c.1396G>C