Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.H192R

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.H192R
c.575A>G
Surrounding Variants
1 paper
NM_000229.2
p.H192H
c.576C>T
1 paper
NM_000229.2
p.A193T
c.577G>A
3 papers
NM_000229.2
p.H192delFs
c.576delG
1 paper
NM_000229.2
p.A194fs
c.580_581fs
3 papers
NM_000229.2
p.Y195*
c.585T>G
2 papers
NM_000229.2
p.Y195*
c.585T>A
1 paper
NM_000229.2
p.V188M
c.562G>A
1 paper
NM_000229.2
p.L187P
c.560T>C
1 paper
NM_000229.2
p.P198T
c.592C>A
1 paper
NM_000229.2
p.A185V
c.554C>T
1 paper
NM_000229.2
p.A185S
c.553G>T
1 paper
NM_000229.2
p.A194_F200delFs
c.580_598del19
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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."