Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.G119S

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.G119S
c.355G>A
Surrounding Variants
3 papers
NM_000229.2
p.G119D
c.356G>A
1 paper
NM_000229.2
p.V120I
c.358G>A
1 paper
NM_000229.2
p.V120V
c.360C>T
1 paper
NM_000229.2
p.A117D
c.350C>A
3 papers
NM_000229.2
p.A117T
c.349G>A
1 paper
NM_000229.2
p.N116N
c.348C>T
2 papers
NM_000229.2
p.N116I
c.347A>T
1 paper
NM_000229.2
p.I122M
c.366C>G
2 papers
NM_000229.2
p.S115P
c.343T>C
6 papers
NM_000229.2
p.R123C
c.367C>T
3 papers
NM_000229.2
p.R123P
c.368G>C
5 papers
NM_000229.2
p.R123H
c.368G>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."