Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.V363L

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.V363L
c.1087G>T
Surrounding Variants
1 paper
NM_000229.2
p.V363L
c.1087G>C
1 paper
NM_000229.2
p.G362A
c.1085G>C
1 paper
NM_000229.2
p.G362D
c.1085G>A
1 paper
NM_000229.2
p.L364P
c.1091T>C
1 paper
NM_000229.2
p.P360T
c.1078C>A
1 paper
NM_000229.2
p.D359Y
c.1075G>T
1 paper
NM_000229.2
p.T358T
c.1074G>A
1 paper
NM_000229.2
p.G368C
c.1102G>T
2 papers
NM_000229.2
p.G368S
c.1102G>A
2 papers
NM_000229.2
p.G368V
c.1103G>T
1 paper
NM_000229.2
p.G368A
c.1103G>C
4 papers
NM_000229.2
p.T371M
c.1112C>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."