Varaico: Literature-Extracted Genetic Variants

Gene:VKORC1
Variant:p.Y139F

VKORC1

353 papers

RefSeq Summary

This gene encodes the catalytic subunit of the vitamin K epoxide reductase complex, which is responsible for the reduction of inactive vitamin K 2,3-epoxide to active vitamin K in the endoplasmic reti...

Pfam Domains

VKORaa 10–150UCSCVitamin K epoxide reductase family

Gene Aliases

HGNC Name

vitamin K epoxide reductase complex subunit 1

HGNC Previous Symbol

VKCFD2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
36 papers
NM_024006.6
p.Y139F
c.416A>T
Surrounding Variants
39 papers
NM_024006.6
p.Y139C
c.416A>G
13 papers
NM_024006.6
p.Y139S
c.416A>C
11 papers
NM_024006.6
p.Y139H
c.415T>C
2 papers
NM_024006.6
p.A140S
c.418G>T
3 papers
NM_024006.6
p.A140T
c.418G>A
1 paper
NM_024006.6
p.T138A
c.412A>G
2 papers
NM_024006.6
p.I141V
c.421A>G
1 paper
NM_024006.6
p.T137A
c.409A>G
1 paper
NM_024006.6
p.I136M
c.408C>G
1 paper
NM_024006.6
p.V143A
c.428T>C
2 papers
NM_024006.6
p.C135S
c.404G>C
1 paper
NM_024006.6
p.C135Y
c.404G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."