Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.Y135*

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.Y135*
c.405C>G
Surrounding Variants
1 paper
NM_000229.2
p.Y135H
c.403T>C
3 papers
NM_000229.2
p.Y135N
c.403T>A
3 papers
NM_000229.2
p.E134D
c.402G>T
2 papers
NM_000229.2
p.E134D
c.402G>C
1 paper
NM_000229.2
p.V133fs
c.397_398fs
1 paper
NM_000229.2
p.V133A
c.398T>C
2 papers
NM_000229.2
p.V133delFs
c.397delC
1 paper
NM_000229.2
p.S138R
c.412A>C
1 paper
NM_000229.2
p.S138N
c.413G>A
1 paper
NM_000229.2
p.S132_V133insFs
c.396_397insA
1 paper
NM_000229.2
p.S138R
c.414C>G
1 paper
NM_000229.2
p.S138R
c.414C>A
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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."