Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.P439S

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.P439S
c.1315C>T
Surrounding Variants
1 paper
NM_000229.2
p.P437L
c.1310C>T
1 paper
NM_000229.2
p.P434L
c.1301C>T
1 paper
NM_000229.2
p.P430L
c.1289C>T
1 paper
NM_000229.2
p.S429S
c.1287C>G
1 paper
NM_000229.2
p.S429A
c.1285T>G
1 paper
NM_000229.2
p.P426S
c.1276C>T
1 paper
NM_000229.2
p.R423H
c.1268G>A
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.G420R
c.1258G>C
1 paper
NM_000229.2
p.L418P
c.1253T>C
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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."