Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.T162I

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.T162I
c.485C>T
Surrounding Variants
1 paper
NM_000229.2
p.V163M
c.487G>A
1 paper
NM_000229.2
p.E161K
c.481G>A
5 papers
NM_000229.2
p.R164C
c.490C>T
2 papers
NM_000229.2
p.D160D
c.480C>T
2 papers
NM_000229.2
p.V163delFs
c.488_489delCA
4 papers
NM_000229.2
p.R164H
c.491G>A
1 paper
NM_000229.2
p.A165S
c.493G>T
1 paper
NM_000229.2
p.A165T
c.493G>A
1 paper
NM_000229.2
p.R159L
c.476G>T
6 papers
NM_000229.2
p.R159Q
c.476G>A
4 papers
NM_000229.2
p.A165ins1
c.493_494insGGC
7 papers
NM_000229.2
p.R159W
c.475C>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."