Varaico: Literature-Extracted Genetic Variants

Gene:LCAT

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
1–12 of 480 variants
26 papers
NM_000229.2
p.G332C
c.994G>T
23 papers
NM_000229.2
p.T147I
c.440C>T
14 papers
NM_000229.2
p.L141R
c.422T>G
13 papers
NM_000229.2
p.S232T
c.694T>A
10 papers
NM_000229.2
p.R268H
c.803G>A
10 papers
NM_000229.2
p.V333M
c.997G>A
9 papers
NM_000229.2
p.P34L
c.101C>T
9 papers
NM_000229.2
p.Y107*
c.321C>A
8 papers
NM_000229.2
p.G175Splc
c.524-22T>C
8 papers
NM_000229.2
p.I202T
c.605T>C
8 papers
NM_000229.2
p.R268C
c.802C>T
8 papers
NM_000229.2
p.R347C
c.1039C>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."