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.I105_A106delFs

c.315_318del4

Surrounding Variants

1 paper

NM_018297.4

p.I107K

c.320T>A

1 paper

NM_018297.4

p.I105N

c.314T>A

3 papers

NM_018297.4

p.D103E

c.309C>A

1 paper

NM_018297.4

p.D103G

c.308A>G

1 paper

NM_018297.4

p.R102S

c.304C>A

1 paper

NM_018297.4

p.R112K

c.335G>A

16 papers

NM_018297.4

p.S116*

c.347C>G

15 papers

NM_018297.4

p.S116*

c.347C>A

1 paper

NM_018297.4

p.S116S

c.348A>C

2 papers

NM_018297.4

p.Q97K

c.289C>A

1 paper

NM_018297.4

p.E96E

c.288G>A

1 paper

NM_018297.4

p.E96K

c.286G>A