Varaico: Literature-Extracted Genetic Variants

Gene:NGLY1

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
1–12 of 307 variants
46 papers
NM_018297.4
p.R401*
c.1201A>T
22 papers
NM_018297.4
p.Q208*
c.622C>T
20 papers
NM_018297.4
p.R402_T403del1
c.1205_1207delTTC
19 papers
NM_018297.4
p.G310G
c.930C>T
17 papers
NM_018297.4
p.R294Splc
c.881+5G>T
16 papers
NM_018297.4
p.S116*
c.347C>G
16 papers
NM_018297.4
p.R390P
c.1169G>C
15 papers
NM_018297.4
p.S116*
c.347C>A
15 papers
NM_018297.4
p.E311K
c.931G>A
15 papers
NM_018297.4
p.L318P
c.953T>C
15 papers
NM_018297.4
p.Q631delFs
c.1891delG
14 papers
NM_018297.4
p.W244R
c.730T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."