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.I374insFs

c.1120_1121ins4

Surrounding Variants

7 papers

NM_001382.4

p.H375Y

c.1123C>T

4 papers

NM_001382.4

p.P373A

c.1117C>G

2 papers

NM_001382.4

p.N378I

c.1133A>T

1 paper

NM_001382.4

p.L379F

c.1135C>T

1 paper

NM_001382.4

p.T380I

c.1139C>T

1 paper

NM_001382.4

p.L381S

c.1142T>C

1 paper

NM_001382.4

p.L384V

c.1150C>G

11 papers

NM_001382.4

p.L385R

c.1154T>G

1 paper

NM_001382.4

p.L386L

c.1158G>C

1 paper

NM_001382.4

p.T356T

c.1068T>G

1 paper

NM_001382.4

p.E351insFs

c.1052dupA

1 paper

NM_001382.4

p.H346Y

c.1036C>T