Varaico: Literature-Extracted Genetic Variants

Gene:DGAT1
Variant:p.Y254H

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.Y254H
c.760T>C
Surrounding Variants
1 paper
NM_012079.6
p.L261L
c.783G>A
2 papers
NM_012079.6
p.F267V
c.799T>G
1 paper
NM_012079.6
p.R272C
c.814C>T
2 papers
NM_012079.6
p.L279P
c.836T>C
1 paper
NM_012079.6
p.L279Q
c.836T>A
5 papers
NM_012079.6
p.R280*
c.838C>T
13 papers
NM_012079.6
p.D251Splc
c.751+2T>C
3 papers
NM_012079.6
p.D251Splc
c.751+1G>C
3 papers
NM_012079.6
p.T248N
c.743C>A
1 paper
NM_012079.6
p.S242S
c.726C>T
1 paper
NM_012079.6
p.V241V
c.723G>T
1 paper
NM_012079.6
p.H239Q
c.717C>G
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