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

12 papers

NM_018297.4

p.L637*

c.1910T>A

Surrounding Variants

12 papers

NM_018297.4

p.L637*

c.1910T>G

7 papers

NM_018297.4

p.L637delFs

c.1910delA

1 paper

NM_018297.4

p.D639A

c.1916A>C

9 papers

NM_018297.4

p.Q631fs

c.1891_1892fs

NM_001145293.2

p.Q613fs

c.1837_1838fs

16 papers

NM_018297.4

p.Q631delFs

c.1891delG

NM_001145293.2

p.Q613delFs

c.1837delG

11 papers

NM_018297.4

p.Q631fs

c.1891_1892fs

3 papers

NM_018297.4

p.T630fs

c.1888_1889fs

1 paper

NM_018297.4

p.L645insFs

c.1933_1934insCC

1 paper

NM_018297.4

p.K650E

c.1948A>G

1 paper

NM_018297.4

p.K650N

c.1950A>T

1 paper

NM_018297.4

p.K650N

c.1950A>C

9 papers

NM_018297.4

p.L618*

c.1853T>G