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

6 papers

NM_018297.4

p.N415fs

c.1243_1244fs

Surrounding Variants

1 paper

NM_018297.4

p.I414delFs

c.1242delA

1 paper

NM_018297.4

p.N415fs

c.1243_1244fs

10 papers

NM_018297.4

p.R411*

c.1231C>T

1 paper

NM_001145293.2

p.K401*

c.1201A>T

1 paper

NM_018297.4

p.A408V

c.1223C>T

8 papers

NM_018297.4

p.R402_T403del2

c.1204_1208del6

20 papers

NM_018297.4

p.R402_T403del1

c.1205_1207delTTC

1 paper

NM_018297.4

p.R402*

c.1204A>T

1 paper

NM_018297.4

p.R401delFs

c.1201delT

46 papers

NM_018297.4

p.R401*

c.1201A>T

1 paper

NM_018297.4

p.I399I

c.1197T>A

1 paper

NM_018297.4

p.E396A

c.1187A>C