Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.R347C

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
8 papers
NM_000229.2
p.R347C
c.1039C>T
Surrounding Variants
1 paper
NM_000229.2
p.R347H
c.1040G>A
1 paper
NM_000229.2
p.P346R
c.1037C>G
1 paper
NM_000229.2
p.R347fs
c.1039_1040fs
1 paper
NM_000229.2
p.T345T
c.1035G>A
1 paper
NM_000229.2
p.T348N
c.1043C>A
7 papers
NM_000229.2
p.T345M
c.1034C>T
1 paper
NM_000229.2
p.L343delFs
c.1029delC
1 paper
NM_000229.2
p.L343fs
c.1027_1028fs
1 paper
NM_000229.2
p.L343R
c.1028T>G
1 paper
NM_000229.2
p.L343V
c.1027C>G
3 papers
NM_000229.2
p.Y351C
c.1052A>G
1 paper
NM_000229.2
p.Y351Y
c.1053C>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."