Varaico: Literature-Extracted Genetic Variants

Gene:VKORC1L1
Variant:p.D43H

VKORC1L1

24 papers

RefSeq Summary

This gene encodes an enzyme important in the vitamin K cycle, which is involved in the carboxylation of glutamate residues present in vitamin K-dependent proteins. The encoded enzyme catalyzes the de-...

Pfam Domains

VKORaa 17–157UCSCVitamin K epoxide reductase family

Gene Aliases

HGNC Name

vitamin K epoxide reductase complex subunit 1L1

HGNC Previous Name

vitamin K epoxide reductase complex subunit 1 like 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173517.6
p.D43H
c.127G>C
Surrounding Variants
1 paper
NM_173517.6
p.D43G
c.128A>G
1 paper
NM_173517.6
p.D43D
c.129C>T
1 paper
NM_173517.6
p.R42Q
c.125G>A
1 paper
NM_173517.6
p.P44R
c.131C>G
1 paper
NM_173517.6
p.P44L
c.131C>T
1 paper
NM_173517.6
p.E41A
c.122A>C
1 paper
NM_173517.6
p.E41K
c.121G>A
1 paper
NM_173517.6
p.E45K
c.133G>A
1 paper
NM_173517.6
p.K40R
c.119A>G
2 papers
NM_173517.6
p.H46Y
c.136C>T
1 paper
NM_173517.6
p.E39A
c.116A>C
1 paper
NM_173517.6
p.A48S
c.142G>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."