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

14 papers

NM_018297.4

p.W244R

c.730T>C

Surrounding Variants

13 papers

NM_018297.4

p.W244R

c.730T>A

1 paper

NM_018297.4

p.H243delFs

c.727_728delTG

3 papers

NM_018297.4

p.W244*

c.731G>A

3 papers

NM_018297.4

p.W244*

c.732G>A

1 paper

NM_018297.4

p.E240_F241delFs

c.719_722del4

1 paper

NM_018297.4

p.E240E

c.720A>G

8 papers

NM_018297.4

p.W236C

c.708G>T

8 papers

NM_018297.4

p.W236C

c.708G>C

1 paper

NM_018297.4

p.W236*

c.708G>A

1 paper

NM_018297.4

p.W236*

c.707G>A

2 papers

NM_018297.4

p.L234F

c.702G>T

2 papers

NM_018297.4

p.L234F

c.702G>C