Varaico: Literature-Extracted Genetic Variants

Gene:DPAGT1
Variant:p.M275V

DPAGT1

156 papers

RefSeq Summary

The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase...

Pfam Domains

Glycos_transf_4aa 98–270UCSCGlycosyl transferase family 4
DPAGT1_insaa 318–360UCSCDPAGT1 insertion domain

Gene Aliases

HGNC Name

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

HGNC Previous Symbol

DPAGT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001382.4
p.M275V
c.823A>G
Surrounding Variants
1 paper
NM_001382.4
p.M275fs
c.823_824fs
1 paper
NM_001382.4
p.N285H
c.853A>C
1 paper
NM_001382.4
p.N285S
c.854A>G
10 papers
NM_001382.4
p.V264G
c.791T>G
7 papers
NM_001382.4
p.V264M
c.790G>A
1 paper
NM_001382.4
p.F286S
c.857T>C
1 paper
NM_001382.4
p.A263D
c.788C>A
1 paper
NM_001382.4
p.L287F
c.859C>T
1 paper
NM_001382.4
p.F257L
c.771T>G
1 paper
NM_001382.4
p.F257L
c.771T>A
1 paper
NM_001382.4
p.F257L
c.769T>C
1 paper
NM_001382.4
p.L294V
c.880C>G
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