Varaico: Literature-Extracted Genetic Variants

Gene:SOAT2
Variant:p.G26E

SOAT2

57 papers

RefSeq Summary

This gene is a member of a small family of acyl coenzyme A:cholesterol acyltransferases. The gene encodes a membrane-bound enzyme localized in the endoplasmic reticulum that produces intracellular cho...

Pfam Domains

MBOATaa 149–494UCSCMBOAT, membrane-bound O-acyltransferase family

Gene Aliases

HGNC Name

sterol O-acyltransferase 2

HGNC Alias Name

acyl-Coenzyme A: cholesterol acyltransferase 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003578.4
p.G26E
c.77G>A
Surrounding Variants
1 paper
NM_003578.4
p.P24T
c.70C>A
2 papers
NM_003578.4
p.G28Splc
c.82+2T>A
1 paper
NM_003578.4
p.E19_R20ins16
c.57_58ins48
1 paper
NM_003578.4
p.L16M
c.46C>A
1 paper
NM_003578.4
p.G15R
c.43G>A
6 papers
NM_003578.4
p.E14G
c.41A>G
1 paper
NM_003578.4
p.R7P
c.20G>C
1 paper
NM_003578.4
p.G28Splc
c.83-70C>A
1 paper
NM_003578.4
p.G28Splc
c.83-8C>G
1 paper
NM_003578.4
p.T32M
c.95C>T
1 paper
NM_003578.4
p.D37N
c.109G>A
1 paper
NM_003578.4
p.E46_A47Splc
c.138+2T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."