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

9 papers

NM_018297.4

p.L618*

c.1853T>A

Surrounding Variants

9 papers

NM_018297.4

p.L618*

c.1853T>G

1 paper

NM_018297.4

p.I613fs

c.1837_1838fs

5 papers

NM_018297.4

p.I613delFs

c.1837delT

2 papers

NM_018297.4

p.I613fs

c.1837_1838fs

1 paper

NM_018297.4

p.S607insFs

c.1819dupT

4 papers

NM_018297.4

p.S607fs

c.1819_1820fs

3 papers

NM_018297.4

p.T630fs

c.1888_1889fs

11 papers

NM_018297.4

p.Q631fs

c.1891_1892fs

16 papers

NM_018297.4

p.Q631delFs

c.1891delG

NM_001145293.2

p.Q613delFs

c.1837delG

9 papers

NM_018297.4

p.Q631fs

c.1891_1892fs

NM_001145293.2

p.Q613fs

c.1837_1838fs

1 paper

NM_018297.4

p.A604T

c.1810G>A

12 papers

NM_018297.4

p.L637*

c.1910T>G