Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.P24S

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.P24S
c.70C>T
Surrounding Variants
1 paper
NM_000229.2
p.P24L
c.71C>T
1 paper
NM_000229.2
p.P24H
c.71C>A
1 paper
NM_000229.2
p.A23V
c.68C>T
1 paper
NM_000229.2
p.A22D
c.65C>A
1 paper
NM_000229.2
p.W26*
c.77G>A
1 paper
NM_000229.2
p.L28P
c.83T>C
1 paper
NM_000229.2
p.L19P
c.56T>C
1 paper
NM_000229.2
p.L18_L28ins3
c.54_83dup30
1 paper
NM_000229.2
p.L18L
c.54G>C
4 papers
NM_000229.2
p.N29I
c.86A>T
5 papers
NM_000229.2
p.N29S
c.86A>G
1 paper
NM_000229.2
p.L15L
c.45G>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."