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

1–12 of 191 variants

16 papers

NM_001382.4

p.Y170C

c.509A>G

15 papers

NM_001382.4

p.R301H

c.902G>A

12 papers

NM_001382.4

p.I29F

c.85A>T

12 papers

NM_001382.4

p.R301C

c.901C>T

11 papers

NM_001382.4

p.L385R

c.1154T>G

10 papers

NM_001382.4

p.A114G

c.341C>G

10 papers

NM_001382.4

p.L168P

c.503T>C

10 papers

NM_001382.4

p.V264G

c.791T>G

9 papers

NM_001382.4

p.M108I

c.324G>T

9 papers

NM_001382.4

p.M108I

c.324G>C

9 papers

NM_001382.4

p.M108I

c.324G>A

9 papers

NM_001382.4

p.L120M

c.358C>A