Varaico: Literature-Extracted Genetic Variants

Gene:VKORC1L1
Variant:p.V36L

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
2 papers
NM_173517.6
p.V36L
c.106G>C
Surrounding Variants
3 papers
NM_173517.6
p.V36L
c.106G>T
1 paper
NM_173517.6
p.H35Q
c.105C>A
1 paper
NM_173517.6
p.H35Q
c.105C>G
2 papers
NM_173517.6
p.E37K
c.109G>A
1 paper
NM_173517.6
p.A33G
c.98C>G
1 paper
NM_173517.6
p.A33P
c.97G>C
1 paper
NM_173517.6
p.E39A
c.116A>C
1 paper
NM_173517.6
p.Y32*
c.96C>A
1 paper
NM_173517.6
p.K40R
c.119A>G
1 paper
NM_173517.6
p.E41K
c.121G>A
1 paper
NM_173517.6
p.E41A
c.122A>C
1 paper
NM_173517.6
p.R42Q
c.125G>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."