Varaico: Literature-Extracted Genetic Variants

NGLY1

408 papers

RefSeq Summary

This gene encodes an enzyme that catalyzes hydrolysis of an N(4)-(acetyl-beta-D-glucosaminyl) asparagine residue to N-acetyl-beta-D-glucosaminylamine and a peptide containing an aspartate residue. The...

Pfam Domains

PUBaa 25–103UCSCPUB domain

Transglut_coreaa 261–354UCSCTransglutaminase-like superfamily

PAWaa 457–651UCSCPNGase C-terminal domain, mannose-binding module PAW

Gene Aliases

HGNC Name

N-glycanase 1

HGNC Alias Symbols

FLJ11005; PNG1; PNG-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018297.4

p.T137K

c.410C>A

Surrounding Variants

1 paper

NM_018297.4

p.T137P

c.409A>C

1 paper

NM_018297.4

p.T136R

c.407C>G

8 papers

NM_018297.4

p.L134_P135delFs

c.402_403delGA

3 papers

NM_018297.4

p.P135fs

c.403_404fs

1 paper

NM_018297.4

p.S140*

c.419C>A

1 paper

NM_018297.4

p.S131C

c.391A>T

1 paper

NM_018297.4

p.A129T

c.385G>A

1 paper

NM_018297.4

p.N146S

c.437A>G

1 paper

NM_018297.4

p.S124S

c.372A>T

1 paper

NM_018297.4

p.S124T

c.370T>A

1 paper

NM_018297.4

p.K123N

c.369G>T

1 paper

NM_018297.4

p.K123K

c.369G>A