Varaico: Literature-Extracted Genetic Variants

Gene:DPAGT1
Variant:p.L19L

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.L19L
c.57G>A
Surrounding Variants
1 paper
NM_001382.4
p.F22_V23insA
c.64_68ins3
1 paper
NM_001382.4
p.A24insFs
c.72dupC
1 paper
NM_001382.4
p.I13N
c.38T>A
1 paper
NM_001382.4
p.L11delFs
c.32delA
1 paper
NM_001382.4
p.P10Q
c.29C>A
12 papers
NM_001382.4
p.I29F
c.85A>T
3 papers
NM_001382.4
p.M9I
c.27G>T
4 papers
NM_001382.4
p.M9insFs
c.26dupT
3 papers
NM_001382.4
p.M9I
c.27G>C
3 papers
NM_001382.4
p.M9I
c.27G>A
3 papers
NM_001382.4
p.P30S
c.88C>T
5 papers
NM_001382.4
p.M9fs
c.25_26fs
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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."