Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.W315*

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
3 papers
NM_000229.2
p.W315*
c.945G>A
Surrounding Variants
3 papers
NM_000229.2
p.W315*
c.944G>A
1 paper
NM_000229.2
p.W315R
c.943T>C
1 paper
NM_000229.2
p.W315R
c.943T>A
3 papers
NM_000229.2
p.M317R
c.950T>G
2 papers
NM_000229.2
p.M317T
c.950T>C
1 paper
NM_000229.2
p.G314R
c.940G>C
2 papers
NM_000229.2
p.M317I
c.951G>T
2 papers
NM_000229.2
p.M317I
c.951G>C
3 papers
NM_000229.2
p.M317I
c.951G>A
1 paper
NM_000229.2
p.E313V
c.938A>T
7 papers
NM_000229.2
p.R322C
c.964C>T
1 paper
NM_000229.2
p.R300_A307insFs
c.899_921dup23
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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."