Varaico: Literature-Extracted Genetic Variants

Gene:VKORC1
Variant:p.Q72L

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
1 paper
NM_024006.6
p.Q72L
c.215A>T
Surrounding Variants
1 paper
NM_024006.6
p.D73H
c.217G>C
6 papers
NM_024006.6
p.G71A
c.212G>C
1 paper
NM_024006.6
p.D73A
c.218A>C
2 papers
NM_024006.6
p.G71R
c.211G>C
2 papers
NM_024006.6
p.G71R
c.211G>A
1 paper
NM_024006.6
p.L70R
c.209T>G
1 paper
NM_024006.6
p.L70Q
c.209T>A
1 paper
NM_024006.6
p.S74N
c.221G>A
2 papers
NM_024006.6
p.L70L
c.208C>T
1 paper
NM_024006.6
p.V69A
c.206T>C
1 paper
NM_024006.6
p.H68delFs
c.203delT
4 papers
NM_024006.6
p.L76P
c.227T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."