Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.T147I

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
23 papers
NM_000229.2
p.T147I
c.440C>T
Surrounding Variants
1 paper
NM_000229.2
p.V149M
c.445G>A
1 paper
NM_000229.2
p.V149V
c.447G>C
5 papers
NM_000229.2
p.Y144C
c.431A>G
1 paper
NM_000229.2
p.V149_Q150del0
c.445_450del6
2 papers
NM_000229.2
p.L152P
c.455T>C
1 paper
NM_000229.2
p.L152L
c.456G>A
1 paper
NM_000229.2
p.V153L
c.457G>C
1 paper
NM_000229.2
p.V153I
c.457G>A
1 paper
NM_000229.2
p.N154D
c.460A>G
6 papers
NM_000229.2
p.N155D
c.463A>G
1 paper
NM_000229.2
p.G156C
c.466G>T
1 paper
NM_000229.2
p.Y157C
c.470A>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."