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.R305S

c.915A>C

Surrounding Variants

1 paper

NM_018297.4

p.R305S

c.915A>T

5 papers

NM_018297.4

p.R308W

c.922C>T

1 paper

NM_018297.4

p.E303A

c.908A>C

1 paper

NM_018297.4

p.R308Q

c.923G>A

19 papers

NM_018297.4

p.G310G

c.930C>T

15 papers

NM_018297.4

p.E311K

c.931G>A

1 paper

NM_018297.4

p.P298S

c.892C>T

1 paper

NM_018297.4

p.N297S

c.890A>G

1 paper

NM_018297.4

p.N297D

c.889A>G

1 paper

NM_018297.4

p.N296D

c.886A>G

15 papers

NM_018297.4

p.L318P

c.953T>C

1 paper

NM_018297.4

p.L318Q

c.953T>A