Varaico: Literature-Extracted Genetic Variants

Gene:SOAT1
Variant:p.E4*

SOAT1

85 papers

RefSeq Summary

The protein encoded by this gene belongs to the acyltransferase family. It is located in the endoplasmic reticulum, and catalyzes the formation of fatty acid-cholesterol esters. This gene has been imp...

Pfam Domains

MBOATaa 171–520UCSCMBOAT, membrane-bound O-acyltransferase family

Gene Aliases

HGNC Name

sterol O-acyltransferase 1

HGNC Previous Name

sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003101.6
p.E4*
c.10G>T
Surrounding Variants
1 paper
NM_003101.6
p.D23V
c.68A>T
1 paper
NM_003101.6
p.D23E
c.69T>A
1 paper
NM_003101.6
p.P29L
c.86C>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."