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

3 papers

NM_001382.4

p.D252A

c.755A>C

Surrounding Variants

2 papers

NM_001382.4

p.D252N

c.754G>A

1 paper

NM_001382.4

p.F254L

c.760T>C

1 paper

NM_001382.4

p.F254I

c.760T>A

1 paper

NM_001382.4

p.F254L

c.762C>G

1 paper

NM_001382.4

p.F254L

c.762C>A

1 paper

NM_001382.4

p.F249L

c.747T>G

1 paper

NM_001382.4

p.F249L

c.747T>A

1 paper

NM_001382.4

p.F249L

c.745T>C

1 paper

NM_001382.4

p.F257L

c.769T>C

1 paper

NM_001382.4

p.F257L

c.771T>G

1 paper

NM_001382.4

p.F257L

c.771T>A

5 papers

NM_001382.4

p.R247W

c.739C>T