Varaico: Literature-Extracted Genetic Variants

Gene:VKORC1L1
Variant:p.L163_N164del2

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.L163_N164del2
c.487_491del6
Surrounding Variants
1 paper
NM_173517.6
p.L163ins1
c.487_488insTTA
1 paper
NM_173517.6
p.L163ins2
c.487_488ins6
1 paper
NM_173517.6
p.L163_N164del1
c.488_490delTGA
1 paper
NM_173517.6
p.L163ins2
c.488_489ins6
1 paper
NM_173517.6
p.L151P
c.452T>C
2 papers
NM_173517.6
p.Y146F
c.437A>T
1 paper
NM_173517.6
p.T145M
c.434C>T
1 paper
NM_173517.6
p.C142S
c.425G>C
1 paper
NM_173517.6
p.C142S
c.424T>A
1 paper
NM_173517.6
p.C139S
c.416G>C
1 paper
NM_173517.6
p.C139S
c.415T>A
1 paper
NM_173517.6
p.L135R
c.404T>G
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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."