Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.Y180N

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
3 papers
NM_000229.2
p.Y180N
c.538T>A
Surrounding Variants
1 paper
NM_000229.2
p.E179G
c.536A>G
1 paper
NM_000229.2
p.E179*
c.535G>T
1 paper
NM_000229.2
p.E179insFs
c.535_536insA
1 paper
NM_000229.2
p.Y181C
c.542A>G
1 paper
NM_000229.2
p.E178V
c.533A>T
5 papers
NM_000229.2
p.R182C
c.544C>T
1 paper
NM_000229.2
p.Q177E
c.529C>G
1 paper
NM_000229.2
p.Q176fs
c.526_527fs
1 paper
NM_000229.2
p.A185S
c.553G>T
1 paper
NM_000229.2
p.A185V
c.554C>T
1 paper
NM_000229.2
p.L187P
c.560T>C
1 paper
NM_000229.2
p.V188M
c.562G>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."