Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.V158M

LCAT

405 papers

RefSeq Summary

This gene encodes the extracellular cholesterol esterifying enzyme, lecithin-cholesterol acyltransferase. The esterification of cholesterol is required for cholesterol transport. Mutations in this gen...

Pfam Domains

LCATaa 81–408UCSCLecithin:cholesterol acyltransferase

Gene Aliases

HGNC Name

lecithin-cholesterol acyltransferase

HGNC Alias Name

phosphatidylcholine--sterol O-acyltransferase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000229.2
p.V158M
c.472G>A
Surrounding Variants
1 paper
NM_000229.2
p.V158V
c.474G>C
1 paper
NM_000229.2
p.Y157C
c.470A>G
7 papers
NM_000229.2
p.R159W
c.475C>T
1 paper
NM_000229.2
p.R159G
c.475C>G
1 paper
NM_000229.2
p.R159L
c.476G>T
6 papers
NM_000229.2
p.R159Q
c.476G>A
1 paper
NM_000229.2
p.G156C
c.466G>T
2 papers
NM_000229.2
p.D160D
c.480C>T
1 paper
NM_000229.2
p.E161K
c.481G>A
6 papers
NM_000229.2
p.N155D
c.463A>G
1 paper
NM_000229.2
p.N154D
c.460A>G
2 papers
NM_000229.2
p.T162I
c.485C>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."