Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.V52Splc

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.V52Splc
c.154+1G>C
Surrounding Variants
2 papers
NM_000229.2
p.V52M
c.154G>A
1 paper
NM_000229.2
p.L51L
c.153C>T
1 paper
NM_000229.2
p.L51L
c.153C>G
1 paper
NM_000229.2
p.L51P
c.152T>C
2 papers
NM_000229.2
p.V52Splc
c.154+5G>A
1 paper
NM_000229.2
p.L51V
c.151C>G
1 paper
NM_000229.2
p.R47_V49delFs
c.141_145del5
1 paper
NM_000229.2
p.P48A
c.142C>G
1 paper
NM_000229.2
p.R47Q
c.140G>A
1 paper
NM_000229.2
p.T46_R47delFs
c.138_139delGT
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."