Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.L396R

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
2 papers
NM_000229.2
p.L396R
c.1187T>G
Surrounding Variants
1 paper
NM_000229.2
p.L396_H397insA
c.1186_1190ins3
3 papers
NM_000229.2
p.L393L
c.1177C>T
2 papers
NM_000229.2
p.Q400insFs
c.1198_1199insG
1 paper
NM_000229.2
p.I399insFs
c.1197dupA
1 paper
NM_000229.2
p.Q400fs
c.1198_1199fs
1 paper
NM_000229.2
p.V391V
c.1173G>A
1 paper
NM_000229.2
p.L402F
c.1204C>T
1 paper
NM_000229.2
p.P390S
c.1168C>T
1 paper
NM_000229.2
p.Q389H
c.1167G>T
1 paper
NM_000229.2
p.Q389H
c.1167G>C
1 paper
NM_000229.2
p.Q389P
c.1166A>C
1 paper
NM_000229.2
p.Q389E
c.1165C>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."