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

9 papers

NM_001382.4

p.L120M

c.358C>A

Surrounding Variants

4 papers

NM_001382.4

p.L120L

c.360G>C

1 paper

NM_001382.4

p.R121H

c.362G>A

1 paper

NM_001382.4

p.W122R

c.364T>C

1 paper

NM_001382.4

p.W122R

c.364T>A

6 papers

NM_001382.4

p.L118V

c.352C>G

8 papers

NM_001382.4

p.V117I

c.349G>A

4 papers

NM_001382.4

p.R123C

c.367C>T

1 paper

NM_001382.4

p.D116G

c.347A>G

1 paper

NM_001382.4

p.D116A

c.347A>C

1 paper

NM_001382.4

p.D116N

c.346G>A

1 paper

NM_001382.4

p.D115delFs

c.344_345delAT

1 paper

NM_001382.4

p.D115E

c.345T>G