Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.R280C

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
2 papers
NM_000229.2
p.R280C
c.838C>T
Surrounding Variants
2 papers
NM_000229.2
p.S279_R280delFs
c.837_838delGA
1 paper
NM_000229.2
p.M281V
c.841A>G
2 papers
NM_000229.2
p.P278S
c.832C>T
1 paper
NM_000229.2
p.A282A
c.846G>A
1 paper
NM_000229.2
p.M276T
c.827T>C
3 papers
NM_000229.2
p.M276K
c.827T>A
1 paper
NM_000229.2
p.W275C
c.825G>T
1 paper
NM_000229.2
p.W275C
c.825G>C
1 paper
NM_000229.2
p.W275*
c.824G>A
1 paper
NM_000229.2
p.W275R
c.823T>C
1 paper
NM_000229.2
p.W275R
c.823T>A
1 paper
NM_000229.2
p.P274L
c.821C>T
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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."