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.N185S

c.554A>G

Surrounding Variants

1 paper

NM_001382.4

p.N185D

c.553A>G

1 paper

NM_001382.4

p.I186M

c.558C>G

1 paper

NM_001382.4

p.N182S

c.545A>G

1 paper

NM_001382.4

p.N182D

c.544A>G

1 paper

NM_001382.4

p.G192R

c.574G>C

8 papers

NM_001382.4

p.G192S

c.574G>A

1 paper

NM_001382.4

p.L193P

c.578T>C

3 papers

NM_001382.4

p.A195G

c.584C>G

1 paper

NM_001382.4

p.L175V

c.523C>G

1 paper

NM_001382.4

p.V171_M173delFs

c.512_519del8

1 paper

NM_001382.4

p.V171fs

c.511_512fs

1 paper

NM_001382.4

p.V200fs

c.598_599fs