Varaico: Literature-Extracted Genetic Variants

Gene:DGAT1
Variant:p.I189M

DGAT1

162 papers

RefSeq Summary

This gene encodes an multipass transmembrane protein that functions as a key metabolic enzyme. The encoded protein catalyzes the conversion of diacylglycerol and fatty acyl CoA to triacylglycerol. Thi...

Pfam Domains

MBOATaa 153–474UCSCMBOAT, membrane-bound O-acyltransferase family

Gene Aliases

HGNC Name

diacylglycerol O-acyltransferase 1

HGNC Alias Symbol

ARGP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012079.6
p.I189M
c.567C>G
Surrounding Variants
2 papers
NM_012079.6
p.P191_V192Fs
c.573_574delinsCCCATCCCACCCTGCCCATCTFs
1 paper
NM_012079.6
p.P191_V192Fs
c.573_574delinsCCCATCCCCCCTCGCCCATCTFs
2 papers
NM_012079.6
p.P191_V192delins
c.573_574delinsCCCAT
1 paper
NM_012079.6
p.P191_V192delins
c.573_574delinsCCCATCCC
1 paper
NM_012079.6
p.N171K
c.513C>G
1 paper
NM_012079.6
p.N171K
c.513C>A
2 papers
NM_012079.6
p.V169M
c.505G>A
1 paper
NM_012079.6
p.L167delFs
c.499delG
1 paper
NM_012079.6
p.V192Splc
c.575-1G>A
1 paper
NM_012079.6
p.V192fs
c.574_575fs
1 paper
NM_012079.6
p.G193R
c.577G>C
1 paper
NM_012079.6
p.L198V
c.592C>G
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