Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.I227F

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.I227F
c.679A>T
Surrounding Variants
1 paper
NM_000229.2
p.F226L
c.678T>G
1 paper
NM_000229.2
p.I227T
c.680T>C
1 paper
NM_000229.2
p.F226L
c.678T>A
1 paper
NM_000229.2
p.F226L
c.676T>C
1 paper
NM_000229.2
p.D228N
c.682G>A
1 paper
NM_000229.2
p.R225H
c.674G>A
1 paper
NM_000229.2
p.R225C
c.673C>T
1 paper
NM_000229.2
p.R225S
c.673C>A
1 paper
NM_000229.2
p.G229V
c.686G>T
1 paper
NM_000229.2
p.K223M
c.668A>T
1 paper
NM_000229.2
p.Y213_W222del0
c.638_664del27
13 papers
NM_000229.2
p.S232T
c.694T>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."