Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.M404I

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.M404I
c.1212G>A
Surrounding Variants
1 paper
NM_000229.2
p.M404I
c.1212G>T
1 paper
NM_000229.2
p.M404I
c.1212G>C
1 paper
NM_000229.2
p.V405A
c.1214T>C
5 papers
NM_000229.2
p.M404V
c.1210A>G
3 papers
NM_000229.2
p.F406V
c.1216T>G
1 paper
NM_000229.2
p.L402F
c.1204C>T
1 paper
NM_000229.2
p.N408S
c.1223A>G
1 paper
NM_000229.2
p.Q400fs
c.1198_1199fs
2 papers
NM_000229.2
p.Q400insFs
c.1198_1199insG
1 paper
NM_000229.2
p.I399insFs
c.1197dupA
1 paper
NM_000229.2
p.E412K
c.1234G>A
1 paper
NM_000229.2
p.E412E
c.1236G>A
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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."