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

2 papers

NM_018297.4

p.R215G

c.643A>G

Surrounding Variants

1 paper

NM_018297.4

p.R213G

c.637A>G

1 paper

NM_018297.4

p.G220S

c.658G>A

5 papers

NM_018297.4

p.G220Splc

c.658+1G>A

22 papers

NM_018297.4

p.Q208*

c.622C>T

1 paper

NM_018297.4

p.V200F

c.598G>T

1 paper

NM_018297.4

p.P199L

c.596C>T

1 paper

NM_018297.4

p.K193E

c.577A>G

5 papers

NM_018297.4

p.Q191*

c.571C>T

1 paper

NM_018297.4

p.L190F

c.568C>T

1 paper

NM_018297.4

p.E186G

c.557A>G

2 papers

NM_018297.4

p.Y185C

c.554A>G

1 paper

NM_018297.4

p.Y185N

c.553T>A