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.R390G

c.1168C>G

Surrounding Variants

9 papers

NM_018297.4

p.R390*

c.1168C>T

1 paper

NM_018297.4

p.R390L

c.1169G>T

16 papers

NM_018297.4

p.R390P

c.1169G>C

8 papers

NM_018297.4

p.R390Q

c.1169G>A

2 papers

NM_018297.4

p.W389*

c.1167G>A

2 papers

NM_018297.4

p.W389*

c.1166G>A

3 papers

NM_018297.4

p.Y391H

c.1171T>C

8 papers

NM_018297.4

p.D386Y

c.1156G>T

5 papers

NM_018297.4

p.E383_V384Splc

c.1150-1G>C

1 paper

NM_018297.4

p.E396A

c.1187A>C

1 paper

NM_018297.4

p.I399I

c.1197T>A

46 papers

NM_018297.4

p.R401*

c.1201A>T