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.K108insFs

c.323_324insT

Surrounding Variants

4 papers

NM_006302.3

p.R110H

c.329G>A

1 paper

NM_006302.3

p.R100H

c.299G>A

1 paper

NM_006302.3

p.L94_F95ins4

c.280_284ins12

1 paper

NM_006302.3

p.S85P

c.253T>C

1 paper

NM_006302.3

p.S76F

c.227C>T

1 paper

NM_006302.3

p.H75P

c.224A>C

1 paper

NM_006302.3

p.T73A

c.217A>G

1 paper

NM_006302.3

p.V72_T73insFs

c.216_217insA

1 paper

NM_006302.3

p.W65*

c.195G>A

1 paper

NM_006302.3

p.W65*

c.194G>A

2 papers

NM_006302.3

p.V62M

c.184G>A

1 paper

NM_006302.3

p.G56_M57delins

c.168_171delinsA