Varaico: Literature-Extracted Genetic Variants

Gene:DGAT1
Variant:p.L105P

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
10 papers
NM_012079.6
p.L105P
c.314T>C
Surrounding Variants
1 paper
NM_012079.6
p.L96_I97Splc
c.289-3C>G
1 paper
NM_012079.6
p.K110N
c.330G>T
2 papers
NM_012079.6
p.K110N
c.330G>C
1 paper
NM_012079.6
p.G112S
c.334G>A
1 paper
NM_012079.6
p.G112fs
c.334_335fs
1 paper
NM_012079.6
p.D116D
c.348C>T
1 paper
NM_012079.6
p.P117R
c.350C>G
3 papers
NM_012079.6
p.L123delFs
c.367_368delAG
1 paper
NM_012079.6
p.F124Y
c.371T>A
1 paper
NM_012079.6
p.D127N
c.379G>A
1 paper
NM_012079.6
p.W131ins1
c.391_392insACA
1 paper
NM_012079.6
p.W131*
c.392G>A
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