Varaico: Literature-Extracted Genetic Variants

Gene:SOAT2
Variant:p.E70K

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
2 papers
NM_003578.4
p.E70K
c.208G>A
Surrounding Variants
1 paper
NM_003578.4
p.A67A
c.201C>A
1 paper
NM_003578.4
p.S77L
c.230C>T
1 paper
NM_003578.4
p.P81L
c.242C>T
1 paper
NM_003578.4
p.A56V
c.167C>T
1 paper
NM_003578.4
p.P85L
c.254C>T
1 paper
NM_003578.4
p.E46_A47Splc
c.139-4G>A
1 paper
NM_003578.4
p.D142N
c.424G>A
1 paper
NM_003578.4
p.E46_A47Splc
c.138+2T>G
1 paper
NM_003578.4
p.D37N
c.109G>A
1 paper
NM_003578.4
p.T32M
c.95C>T
1 paper
NM_003578.4
p.G28Splc
c.83-8C>G
1 paper
NM_003578.4
p.G28Splc
c.83-70C>A
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