Varaico: Literature-Extracted Genetic Variants

Gene:DGAT1
Variant:p.S210F

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.S210F
c.629C>T
Surrounding Variants
8 papers
NM_012079.6
p.S210_Y211del1
c.629_631delAGG
1 paper
NM_012079.6
p.K207R
c.620A>G
1 paper
NM_012079.6
p.T202N
c.605C>A
2 papers
NM_012079.6
p.A200V
c.599C>T
1 paper
NM_012079.6
p.M199T
c.596T>C
1 paper
NM_012079.6
p.L198V
c.592C>G
1 paper
NM_012079.6
p.A223T
c.667G>A
3 papers
NM_012079.6
p.A226Splc
c.676+1G>T
2 papers
NM_012079.6
p.A226Splc
c.676+1G>A
1 paper
NM_012079.6
p.G193R
c.577G>C
1 paper
NM_012079.6
p.V192fs
c.574_575fs
1 paper
NM_012079.6
p.V192Splc
c.575-1G>A
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