Varaico: Literature-Extracted Genetic Variants

Gene:VKORC1
Variant:p.L70R

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.L70R
c.209T>G
Surrounding Variants
1 paper
NM_024006.6
p.L70Q
c.209T>A
2 papers
NM_024006.6
p.L70L
c.208C>T
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.V69A
c.206T>C
6 papers
NM_024006.6
p.G71A
c.212G>C
1 paper
NM_024006.6
p.H68delFs
c.203delT
1 paper
NM_024006.6
p.Q72L
c.215A>T
7 papers
NM_024006.6
p.H68R
c.203A>G
1 paper
NM_024006.6
p.H68P
c.203A>C
6 papers
NM_024006.6
p.H68Y
c.202C>T
2 papers
NM_024006.6
p.H68N
c.202C>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."