Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.P34Q

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
5 papers
NM_000229.2
p.P34Q
c.101C>A
Surrounding Variants
9 papers
NM_000229.2
p.P34L
c.101C>T
4 papers
NM_000229.2
p.P34insFs
c.101dupC
1 paper
NM_000229.2
p.P33P
c.99C>G
5 papers
NM_000229.2
p.P34delFs
c.102delC
1 paper
NM_000229.2
p.H35R
c.104A>G
1 paper
NM_000229.2
p.P33S
c.97C>T
1 paper
NM_000229.2
p.H35fs
c.103_104fs
1 paper
NM_000229.2
p.T36P
c.106A>C
2 papers
NM_000229.2
p.T36I
c.107C>T
7 papers
NM_000229.2
p.T37M
c.110C>T
1 paper
NM_000229.2
p.T37T
c.111G>A
1 paper
NM_000229.2
p.K39*
c.115A>T
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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."