Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.V333M

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
10 papers
NM_000229.2
p.V333M
c.997G>A
Surrounding Variants
26 papers
NM_000229.2
p.G332C
c.994G>T
1 paper
NM_000229.2
p.E334G
c.1001A>G
3 papers
NM_000229.2
p.P331S
c.991C>T
1 paper
NM_000229.2
p.Y336C
c.1007A>G
5 papers
NM_000229.2
p.C337Y
c.1010G>A
3 papers
NM_000229.2
p.L338F
c.1012C>T
1 paper
NM_000229.2
p.L338H
c.1013T>A
1 paper
NM_000229.2
p.A326A
c.978A>T
1 paper
NM_000229.2
p.A326V
c.977C>T
1 paper
NM_000229.2
p.G340insFs
c.1018_1019insT
1 paper
NM_000229.2
p.L325del1
c.973_974delCAG
1 paper
NM_000229.2
p.L324del1
c.970_971delGAG
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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."