Varaico: Literature-Extracted Genetic Variants

MOGS

160 papers

RefSeq Summary

This gene encodes the first enzyme in the N-linked oligosaccharide processing pathway. The enzyme cleaves the distal alpha-1,2-linked glucose residue from the Glc(3)-Man(9)-GlcNAc(2) oligosaccharide p...

Pfam Domains

Glyco_hydro_63Naa 93–260UCSCGlycosyl hydrolase family 63 N-terminal domain

Glyco_hydro_63aa 352–835UCSCGlycosyl hydrolase family 63 C-terminal domain

Gene Aliases

HGNC Name

mannosyl-oligosaccharide glucosidase

HGNC Alias Symbols

GCS1; CWH41; DER7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006302.3

p.E380del1

c.1138_1140delCTC

Surrounding Variants

1 paper

NM_006302.3

p.K381_S384del4

c.1141_1151del12

1 paper

NM_006302.3

p.G386S

c.1156G>A

1 paper

NM_006302.3

p.E373Q

c.1117G>C

1 paper

NM_006302.3

p.L390insFs

c.1168_1169insC

1 paper

NM_006302.3

p.L390_G397del0

c.1168_1191del24

1 paper

NM_001146158.2

p.G294delFs

c.882delA

1 paper

NM_006302.3

p.A360V

c.1079C>T

1 paper

NM_006302.3

p.G354D

c.1061G>A

1 paper

NM_006302.3

p.P413S

c.1237C>T

3 papers

NM_006302.3

p.Y404_P413insFs

c.1212_1239dup28

4 papers

NM_006302.3

p.D414fs

c.1240_1241fs

2 papers

NM_006302.3

p.I415M

c.1245C>G