Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.K242N

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.K242N
c.726G>T
Surrounding Variants
1 paper
NM_000229.2
p.K242N
c.726G>C
1 paper
NM_000229.2
p.P243S
c.727C>T
1 paper
NM_000229.2
p.K242R
c.725A>G
4 papers
NM_000229.2
p.V246F
c.736G>T
1 paper
NM_000229.2
p.G239R
c.715G>C
2 papers
NM_000229.2
p.G239S
c.715G>A
1 paper
NM_000229.2
p.G238C
c.712G>T
1 paper
NM_000229.2
p.G238R
c.712G>C
1 paper
NM_000229.2
p.A248T
c.742G>A
1 paper
NM_000229.2
p.A248A
c.744C>A
1 paper
NM_000229.2
p.S249A
c.745T>G
2 papers
NM_000229.2
p.P236S
c.706C>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."