Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.L216L

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.L216L
c.648G>A
Surrounding Variants
3 papers
NM_000229.2
p.R217C
c.649C>T
3 papers
NM_000229.2
p.Y213C
c.638A>G
1 paper
NM_000229.2
p.Y213H
c.637T>C
2 papers
NM_000229.2
p.L211insFs
c.633dupG
1 paper
NM_000229.2
p.L211V
c.631T>G
1 paper
NM_000229.2
p.L211L
c.631T>C
1 paper
NM_000229.2
p.Y213_W222del0
c.638_664del27
1 paper
NM_000229.2
p.H210R
c.629A>G
4 papers
NM_000229.2
p.H210P
c.629A>C
1 paper
NM_000229.2
p.K223M
c.668A>T
7 papers
NM_000229.2
p.L209P
c.626T>C
1 paper
NM_000229.2
p.R225C
c.673C>T
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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."