Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.L42insFs

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.L42insFs
c.124_125insC
Surrounding Variants
1 paper
NM_000229.2
p.S43C
c.127A>T
1 paper
NM_000229.2
p.S43T
c.128G>C
1 paper
NM_000229.2
p.S43N
c.128G>A
1 paper
NM_000229.2
p.A40V
c.119C>T
1 paper
NM_000229.2
p.A40D
c.119C>A
1 paper
NM_000229.2
p.A40S
c.118G>T
1 paper
NM_000229.2
p.K39M
c.116A>T
1 paper
NM_000229.2
p.K39*
c.115A>T
1 paper
NM_000229.2
p.T46P
c.136A>C
1 paper
NM_000229.2
p.T37T
c.111G>A
1 paper
NM_000229.2
p.R47W
c.139C>T
1 paper
NM_000229.2
p.R47G
c.139C>G
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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."