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

7 papers

NM_018297.4

p.E82_G83Splc

c.247-2A>G

Surrounding Variants

8 papers

NM_018297.4

p.E84*

c.250G>T

1 paper

NM_018297.4

p.T85T

c.255A>T

1 paper

NM_018297.4

p.H86Y

c.256C>T

1 paper

NM_018297.4

p.A93fs

c.277_278fs

1 paper

NM_018297.4

p.A93V

c.278C>T

1 paper

NM_018297.4

p.S94fs

c.280_281fs

1 paper

NM_018297.4

p.S94delFs

c.280delA

1 paper

NM_018297.4

p.V95delFs

c.284delA

1 paper

NM_018297.4

p.E96K

c.286G>A

1 paper

NM_018297.4

p.E96E

c.288G>A

2 papers

NM_018297.4

p.Q97K

c.289C>A

1 paper

NM_018297.4

p.R102S

c.304C>A