Varaico: Literature-Extracted Genetic Variants

Gene:DGAT1
Variant:p.M308I

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.M308I
c.924G>A
Surrounding Variants
1 paper
NM_012079.6
p.M308I
c.924G>T
1 paper
NM_012079.6
p.M308I
c.924G>C
1 paper
NM_012079.6
p.Q305*
c.913C>T
1 paper
NM_012079.6
p.T303I
c.908C>T
1 paper
NM_012079.6
p.T303P
c.907A>C
1 paper
NM_012079.6
p.P302L
c.905C>T
1 paper
NM_012079.6
p.K312_D313Splc
c.936+8G>C
5 papers
NM_012079.6
p.Q298_W299Splc
c.895-1G>A
6 papers
NM_012079.6
p.K312_D313Splc
c.937-1G>A
1 paper
NM_012079.6
p.Y316H
c.946T>C
1 paper
NM_012079.6
p.Q297H
c.891G>T
1 paper
NM_012079.6
p.Q297H
c.891G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."