Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.F289L

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.F289L
c.865T>C
Surrounding Variants
1 paper
NM_000229.2
p.R280_V288insFs
c.840_862dup23
2 papers
NM_000229.2
p.V288delFs
c.862delC
1 paper
NM_000229.2
p.F289L
c.867C>G
1 paper
NM_000229.2
p.F289L
c.867C>A
1 paper
NM_000229.2
p.V288fs
c.862_863fs
1 paper
NM_000229.2
p.H287H
c.861C>T
1 paper
NM_000229.2
p.S291S
c.873C>G
1 paper
NM_000229.2
p.T292P
c.874A>C
1 paper
NM_000229.2
p.T292I
c.875C>T
1 paper
NM_000229.2
p.P293S
c.877C>T
1 paper
NM_000229.2
p.P293P
c.879C>T
1 paper
NM_000229.2
p.P293P
c.879C>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."