Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.Q267Q

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.Q267Q
c.801G>A
Surrounding Variants
8 papers
NM_000229.2
p.R268C
c.802C>T
1 paper
NM_000229.2
p.R268G
c.802C>G
1 paper
NM_000229.2
p.E265_Q267delFs
c.794_801del8
4 papers
NM_000229.2
p.R268L
c.803G>T
10 papers
NM_000229.2
p.R268H
c.803G>A
1 paper
NM_000229.2
p.I269delFs
c.805delT
1 paper
NM_000229.2
p.E265V
c.794A>T
1 paper
NM_000229.2
p.L263M
c.787C>A
1 paper
NM_000229.2
p.S273F
c.818C>T
7 papers
NM_000229.2
p.P274S
c.820C>T
1 paper
NM_000229.2
p.P274L
c.821C>T
2 papers
NM_000229.2
p.P274R
c.821C>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."