Varaico: Literature-Extracted Genetic Variants

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.V139L

c.415G>C

Surrounding Variants

1 paper

NM_001382.4

p.M138T

c.413T>C

3 papers

NM_001382.4

p.Y140C

c.419A>G

1 paper

NM_001382.4

p.P135_L136del2

c.403_407del6

2 papers

NM_001382.4

p.S133fs

c.397_398fs

5 papers

NM_001382.4

p.S133fs

c.397_398fs

4 papers

NM_001382.4

p.L127_A132insFs

c.380_395dup16

1 paper

NM_001382.4

p.L126delFs

c.377delA

2 papers

NM_001382.4

p.K125N

c.375G>T

2 papers

NM_001382.4

p.K125N

c.375G>C

1 paper

NM_001382.4

p.K125E

c.373A>G

1 paper

NM_001382.4

p.K125Q

c.373A>C

4 papers

NM_001382.4

p.R123C

c.367C>T