Varaico: Literature-Extracted Genetic Variants

Gene:VKORC1
Variant:p.Y39H

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
2 papers
NM_024006.6
p.Y39H
c.115T>C
Surrounding Variants
1 paper
NM_024006.6
p.Y39N
c.115T>A
1 paper
NM_024006.6
p.Y39C
c.116A>G
1 paper
NM_024006.6
p.Y39Y
c.117C>T
4 papers
NM_024006.6
p.D38A
c.113A>C
3 papers
NM_024006.6
p.D38Y
c.112G>T
1 paper
NM_024006.6
p.R40C
c.118C>T
1 paper
NM_024006.6
p.R40G
c.118C>G
30 papers
NM_024006.6
p.A41S
c.121G>T
1 paper
NM_024006.6
p.A41T
c.121G>A
2 papers
NM_024006.6
p.R37G
c.109C>G
2 papers
NM_024006.6
p.A41V
c.122C>T
8 papers
NM_024006.6
p.D36G
c.107A>G
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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."