Varaico: Literature-Extracted Genetic Variants

Gene:VKORC1
Variant:p.R53S

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
3 papers
NM_024006.6
p.R53S
c.157C>A
Surrounding Variants
2 papers
NM_024006.6
p.R53C
c.157C>T
1 paper
NM_024006.6
p.R53P
c.158G>C
8 papers
NM_024006.6
p.S52L
c.155C>T
7 papers
NM_024006.6
p.S52W
c.155C>G
1 paper
NM_024006.6
p.S52*
c.155C>A
1 paper
NM_024006.6
p.S52delFs
c.154delA
1 paper
NM_024006.6
p.S52A
c.154T>G
14 papers
NM_024006.6
p.V54L
c.160G>C
1 paper
NM_024006.6
p.S52fs
c.154_155fs
2 papers
NM_024006.6
p.C51S
c.152G>C
1 paper
NM_024006.6
p.F55V
c.163T>G
2 papers
NM_024006.6
p.C51S
c.151T>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."