Varaico: Literature-Extracted Genetic Variants

Gene:DGAT1
Variant:p.R396W

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.R396W
c.1186C>T
Surrounding Variants
2 papers
NM_012079.6
p.G397S
c.1189G>A
1 paper
NM_012079.6
p.R395*
c.1183C>T
1 paper
NM_012079.6
p.L394F
c.1180C>T
1 paper
NM_012079.6
p.P392A
c.1174C>G
5 papers
NM_012079.6
p.W401*
c.1202G>A
5 papers
NM_012079.6
p.W401*
c.1203G>A
1 paper
NM_012079.6
p.H388Y
c.1162C>T
1 paper
NM_012079.6
p.T405_G406delFs
c.1215_1216delCT
1 paper
NM_012079.6
p.V407_F408insC
c.1219_1223ins3
1 paper
NM_012079.6
p.S411A
c.1231T>G
1 paper
NM_012079.6
p.S411W
c.1232C>G
1 paper
NM_012079.6
p.A412insFs
c.1235_1236insA
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