Varaico: Literature-Extracted Genetic Variants

Gene:VKORC1
Variant:p.K30_A31insFs

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.K30_A31insFs
c.90_91insG
Surrounding Variants
1 paper
NM_024006.6
p.K30R
c.89A>G
1 paper
NM_024006.6
p.A32A
c.96G>A
2 papers
NM_024006.6
p.K30E
c.88A>G
2 papers
NM_024006.6
p.R33G
c.97C>G
1 paper
NM_024006.6
p.V29G
c.86T>G
3 papers
NM_024006.6
p.R33P
c.98G>C
50 papers
NM_024006.6
p.V29L
c.85G>T
49 papers
NM_024006.6
p.V29L
c.85G>C
1 paper
NM_024006.6
p.V29M
c.85G>A
6 papers
NM_024006.6
p.A34P
c.100G>C
1 paper
NM_024006.6
p.R33delFs
c.99delG
1 paper
NM_024006.6
p.H28H
c.84C>T
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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."