Varaico: Literature-Extracted Genetic Variants

Gene:SOAT2
Variant:p.L203L

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.L203L
c.609G>T
Surrounding Variants
2 papers
NM_003578.4
p.L203_L204delins
c.609_610delinsTT
1 paper
NM_003578.4
p.L204L
c.610C>T
1 paper
NM_003578.4
p.A196T
c.586G>A
1 paper
NM_003578.4
p.R190fs
c.568_569fs
1 paper
NM_003578.4
p.R190delFs
c.569delG
1 paper
NM_003578.4
p.Y182*
c.546C>A
1 paper
NM_003578.4
p.Y182*
c.546C>G
1 paper
NM_003578.4
p.P181P
c.543G>A
1 paper
NM_003578.4
p.A166A
c.498G>A
1 paper
NM_003578.4
p.L150L
c.450G>A
2 papers
NM_003578.4
p.S245F
c.734C>T
1 paper
NM_003578.4
p.L247L
c.741G>A
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