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.G274D

c.821G>A

Surrounding Variants

1 paper

NM_018297.4

p.K276E

c.826A>G

1 paper

NM_018297.4

p.K272R

c.815A>G

1 paper

NM_018297.4

p.D268A

c.803A>C

1 paper

NM_018297.4

p.S267fs

c.799_800fs

1 paper

NM_018297.4

p.S267N

c.800G>A

3 papers

NM_018297.4

p.S267fs

c.799_800fs

1 paper

NM_018297.4

p.S267C

c.799A>T

1 paper

NM_018297.4

p.P266delFs

c.798delG

1 paper

NM_018297.4

p.P266P

c.798C>T

7 papers

NM_018297.4

p.C283W

c.849T>G

1 paper

NM_001145294.2

p.C244R

c.730T>C

2 papers

NM_018297.4

p.C286Y

c.857G>A