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.L287F

c.859C>T

Surrounding Variants

1 paper

NM_001382.4

p.F286S

c.857T>C

1 paper

NM_001382.4

p.N285S

c.854A>G

1 paper

NM_001382.4

p.N285H

c.853A>C

1 paper

NM_001382.4

p.L294V

c.880C>G

1 paper

NM_001382.4

p.H295R

c.884A>G

7 papers

NM_001382.4

p.I297F

c.889A>T

1 paper

NM_001382.4

p.M275fs

c.823_824fs

1 paper

NM_001382.4

p.M275V

c.823A>G

12 papers

NM_001382.4

p.R301C

c.901C>T

15 papers

NM_001382.4

p.R301H

c.902G>A

1 paper

NM_001382.4

p.R303H

c.908G>A

1 paper

NM_001382.4

p.R306G

c.916A>G