Varaico: Literature-Extracted Genetic Variants

Gene:VKORC1
Variant:p.L124Q

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
4 papers
NM_024006.6
p.L124Q
c.371T>A
Surrounding Variants
2 papers
NM_024006.6
p.L124M
c.370C>A
2 papers
NM_024006.6
p.I123M
c.369C>G
10 papers
NM_024006.6
p.I123N
c.368T>A
1 paper
NM_024006.6
p.F126L
c.378C>A
2 papers
NM_024006.6
p.V127M
c.379G>A
1 paper
NM_024006.6
p.V127A
c.380T>C
1 paper
NM_024006.6
p.L120delFs
c.360delC
49 papers
NM_024006.6
p.L128R
c.383T>G
21 papers
NM_024006.6
p.L120Q
c.359T>A
11 papers
NM_024006.6
p.L120L
c.358C>T
1 paper
NM_024006.6
p.Y119N
c.355T>A
1 paper
NM_024006.6
p.V118A
c.353T>C
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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."