Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.G175Splc

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.G175Splc
c.523+1G>A
Surrounding Variants
1 paper
NM_000229.2
p.P174L
c.521C>T
1 paper
NM_000229.2
p.E173V
c.518A>T
1 paper
NM_000229.2
p.L172P
c.515T>C
4 papers
NM_000229.2
p.L172L
c.514C>T
7 papers
NM_000229.2
p.R171Q
c.512G>A
5 papers
NM_000229.2
p.R171W
c.511C>T
1 paper
NM_000229.2
p.W170R
c.508T>C
1 paper
NM_000229.2
p.W170R
c.508T>A
3 papers
NM_000229.2
p.Y168C
c.503A>G
4 papers
NM_000229.2
p.P167P
c.501C>T
2 papers
NM_000229.2
p.A166T
c.496G>A
4 papers
NM_000229.2
p.A165ins1
c.493_494insGGC
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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."