Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.S232T

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
13 papers
NM_000229.2
p.S232T
c.694T>A
Surrounding Variants
5 papers
NM_000229.2
p.L233P
c.698T>C
1 paper
NM_000229.2
p.G229V
c.686G>T
3 papers
NM_000229.2
p.A235T
c.703G>A
1 paper
NM_000229.2
p.D228N
c.682G>A
2 papers
NM_000229.2
p.P236S
c.706C>T
1 paper
NM_000229.2
p.I227T
c.680T>C
1 paper
NM_000229.2
p.I227F
c.679A>T
1 paper
NM_000229.2
p.F226L
c.678T>G
1 paper
NM_000229.2
p.F226L
c.678T>A
1 paper
NM_000229.2
p.F226L
c.676T>C
1 paper
NM_000229.2
p.G238C
c.712G>T
1 paper
NM_000229.2
p.G238R
c.712G>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."