Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.A326A

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.A326A
c.978A>T
Surrounding Variants
1 paper
NM_000229.2
p.A326V
c.977C>T
1 paper
NM_000229.2
p.L325del1
c.973_974delCAG
1 paper
NM_000229.2
p.L324del1
c.970_971delGAG
1 paper
NM_000229.2
p.L324delFs
c.972delG
3 papers
NM_000229.2
p.P331S
c.991C>T
7 papers
NM_000229.2
p.R322C
c.964C>T
26 papers
NM_000229.2
p.G332C
c.994G>T
10 papers
NM_000229.2
p.V333M
c.997G>A
1 paper
NM_000229.2
p.E334G
c.1001A>G
2 papers
NM_000229.2
p.M317I
c.951G>T
2 papers
NM_000229.2
p.M317I
c.951G>C
3 papers
NM_000229.2
p.M317I
c.951G>A
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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."