Varaico: Literature-Extracted Genetic Variants

Gene:SOAT2

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
1–12 of 60 variants
6 papers
NM_003578.4
p.E14G
c.41A>G
5 papers
NM_003578.4
p.T254I
c.761C>T
2 papers
NM_003578.4
p.G28Splc
c.82+2T>A
2 papers
NM_003578.4
p.E70K
c.208G>A
2 papers
NM_003578.4
p.L203_L204delins
c.609_610delinsTT
2 papers
NM_003578.4
p.S245F
c.734C>T
1 paper
NM_003578.4
p.R7P
c.20G>C
1 paper
NM_003578.4
p.G15R
c.43G>A
1 paper
NM_003578.4
p.L16M
c.46C>A
1 paper
NM_003578.4
p.E19_R20ins16
c.57_58ins48
1 paper
NM_003578.4
p.P24T
c.70C>A
1 paper
NM_003578.4
p.G26E
c.77G>A
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