Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.L418P

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.L418P
c.1253T>C
Surrounding Variants
1 paper
NM_000229.2
p.G420R
c.1258G>C
4 papers
NM_000229.2
p.N415S
c.1244A>G
1 paper
NM_000229.2
p.I414M
c.1242C>G
5 papers
NM_000229.2
p.R423C
c.1267C>T
1 paper
NM_000229.2
p.R423G
c.1267C>G
1 paper
NM_000229.2
p.R423S
c.1267C>A
1 paper
NM_000229.2
p.R423H
c.1268G>A
1 paper
NM_000229.2
p.E412E
c.1236G>A
1 paper
NM_000229.2
p.E412K
c.1234G>A
1 paper
NM_000229.2
p.P426S
c.1276C>T
1 paper
NM_000229.2
p.N408S
c.1223A>G
1 paper
NM_000229.2
p.S429A
c.1285T>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."