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.G34C

c.100G>T

Surrounding Variants

3 papers

NM_001382.4

p.P30S

c.88C>T

1 paper

NM_001382.4

p.A38G

c.113C>G

12 papers

NM_001382.4

p.I29F

c.85A>T

1 paper

NM_001382.4

p.A39V

c.116C>T

2 papers

NM_001382.4

p.A39delins

c.116_117delinsAA

1 paper

NM_001382.4

p.L41P

c.122T>C

1 paper

NM_001382.4

p.A24insFs

c.72dupC

1 paper

NM_001382.4

p.F22_V23insA

c.64_68ins3

4 papers

NM_001382.4

p.D45_L46delFs

c.135_136delGG

3 papers

NM_001382.4

p.L46fs

c.136_137fs

1 paper

NM_001382.4

p.N47H

c.139A>C

1 paper

NM_001382.4

p.L19L

c.57G>A