Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.R375H

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.R375H
c.1124G>A
Surrounding Variants
3 papers
NM_000229.2
p.R375C
c.1123C>T
1 paper
NM_000229.2
p.S376N
c.1127G>A
2 papers
NM_000229.2
p.A373V
c.1118C>T
5 papers
NM_000229.2
p.A373P
c.1117G>C
1 paper
NM_000229.2
p.E378K
c.1132G>A
1 paper
NM_000229.2
p.V372A
c.1115T>C
1 paper
NM_000229.2
p.L379F
c.1135C>T
4 papers
NM_000229.2
p.T371M
c.1112C>T
1 paper
NM_000229.2
p.C380R
c.1138T>C
2 papers
NM_000229.2
p.C380Y
c.1139G>A
2 papers
NM_000229.2
p.G368V
c.1103G>T
1 paper
NM_000229.2
p.G368A
c.1103G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."