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.R328S

c.982C>A

Surrounding Variants

8 papers

NM_018297.4

p.R328C

c.982C>T

8 papers

NM_018297.4

p.R328G

c.982C>G

1 paper

NM_018297.4

p.R328L

c.983G>T

1 paper

NM_018297.4

p.R328P

c.983G>C

1 paper

NM_018297.4

p.R328H

c.983G>A

6 papers

NM_018297.4

p.R321*

c.961C>T

1 paper

NM_018297.4

p.C320S

c.959G>C

1 paper

NM_018297.4

p.C320S

c.958T>A

7 papers

NM_018297.4

p.D335Splc

c.1003+3A>G

1 paper

NM_018297.4

p.C315_L318del4

c.943_953del12

15 papers

NM_018297.4

p.L318P

c.953T>C

1 paper

NM_018297.4

p.L318Q

c.953T>A