Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.D301E

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.D301E
c.903C>A
Surrounding Variants
1 paper
NM_000229.2
p.D301D
c.903C>T
1 paper
NM_000229.2
p.D301E
c.903C>G
1 paper
NM_000229.2
p.D301_F302insFs
c.903_904insT
1 paper
NM_000229.2
p.R300H
c.899G>A
1 paper
NM_000229.2
p.R300C
c.898C>T
1 paper
NM_000229.2
p.Q303H
c.909A>T
1 paper
NM_000229.2
p.Q303Q
c.909A>G
1 paper
NM_000229.2
p.Q303H
c.909A>C
3 papers
NM_000229.2
p.R304H
c.911G>A
4 papers
NM_000229.2
p.T298I
c.893C>T
3 papers
NM_000229.2
p.T298A
c.892A>G
1 paper
NM_000229.2
p.Y297*
c.891C>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."