Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.S6C

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.S6C
c.17C>G
Surrounding Variants
1 paper
NM_000229.2
p.P4delFs
c.10delG
1 paper
NM_000229.2
p.P7insFs
c.20dupC
1 paper
NM_000229.2
p.W8R
c.22T>C
1 paper
NM_000229.2
p.P3_P7del5
c.7_20del15
1 paper
NM_000229.2
p.W8L
c.23G>T
2 papers
NM_000229.2
p.W8*
c.23G>A
1 paper
NM_000229.2
p.P4R
c.11C>G
2 papers
NM_000229.2
p.W8*
c.24G>A
1 paper
NM_000229.2
p.P4S
c.10C>T
1 paper
NM_000229.2
p.Q9E
c.25C>G
1 paper
NM_000229.2
p.P3Q
c.8C>A
1 paper
NM_000229.2
p.M1_P3delFs
c.3_7del5
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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."