Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.L15L

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.L15L
c.45G>C
Surrounding Variants
1 paper
NM_000229.2
p.L15P
c.44T>C
1 paper
NM_000229.2
p.L14L
c.40C>T
1 paper
NM_000229.2
p.L13R
c.38T>G
1 paper
NM_000229.2
p.T12T
c.36G>T
1 paper
NM_000229.2
p.L18L
c.54G>C
1 paper
NM_000229.2
p.T12T
c.36G>A
4 papers
NM_000229.2
p.T12M
c.35C>T
1 paper
NM_000229.2
p.L19P
c.56T>C
1 paper
NM_000229.2
p.T12A
c.34A>G
1 paper
NM_000229.2
p.V11A
c.32T>C
1 paper
NM_000229.2
p.V11E
c.32T>A
3 papers
NM_000229.2
p.V11delFs
c.31delC
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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."