Varaico: Literature-Extracted Genetic Variants

Gene:DGAT1
Variant:p.A327_V328Splc

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
2 papers
NM_012079.6
p.A327_V328Splc
c.981+1G>T
Surrounding Variants
3 papers
NM_012079.6
p.I319fs
c.955_956fs
1 paper
NM_012079.6
p.R318insFs
c.953_954insGC
3 papers
NM_012079.6
p.R318insFs
c.953_954insG
3 papers
NM_012079.6
p.R318insFs
c.953_954insC
1 paper
NM_012079.6
p.R318C
c.952C>T
1 paper
NM_012079.6
p.Y316F
c.947A>T
1 paper
NM_012079.6
p.Y316H
c.946T>C
6 papers
NM_012079.6
p.K312_D313Splc
c.937-1G>A
1 paper
NM_012079.6
p.I333L
c.997A>C
1 paper
NM_012079.6
p.I333N
c.998T>A
1 paper
NM_012079.6
p.K312_D313Splc
c.936+8G>C
7 papers
NM_012079.6
p.F338_Y339del1
c.1013_1015delAGA
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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."