Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.P198T

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.P198T
c.592C>A
Surrounding Variants
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.A194_F200delFs
c.580_598del19
1 paper
NM_000229.2
p.F200L
c.600C>G
1 paper
NM_000229.2
p.L201H
c.602T>A
1 paper
NM_000229.2
p.A194fs
c.580_581fs
2 papers
NM_000229.2
p.I202insFs
c.604dupA
8 papers
NM_000229.2
p.I202T
c.605T>C
1 paper
NM_000229.2
p.I202fs
c.604_605fs
1 paper
NM_000229.2
p.G203R
c.607G>C
1 paper
NM_000229.2
p.A193T
c.577G>A
3 papers
NM_000229.2
p.H192delFs
c.576delG
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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."