Varaico: Literature-Extracted Genetic Variants

Gene:VKORC1L1

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
1–12 of 60 variants
3 papers
NM_173517.6
p.V36L
c.106G>T
2 papers
NM_173517.6
p.V36L
c.106G>C
2 papers
NM_173517.6
p.E37K
c.109G>A
2 papers
NM_173517.6
p.H46Y
c.136C>T
2 papers
NM_173517.6
p.C50S
c.148T>A
2 papers
NM_173517.6
p.C50S
c.149G>C
2 papers
NM_173517.6
p.W55delFs
c.163_164delTG
2 papers
NM_173517.6
p.C58S
c.172T>A
2 papers
NM_173517.6
p.C58S
c.173G>C
2 papers
NM_173517.6
p.Y146F
c.437A>T
2 papers
NM_173517.6
p.L163_N164del2
c.487_491del6
1 paper
NM_173517.6
p.A2insFs
c.4_5ins4
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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."