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

2 papers

NM_006302.3

p.G222R

c.664G>A

Surrounding Variants

2 papers

NM_006302.3

p.G222R

c.664G>C

1 paper

NM_006302.3

p.I230F

c.688A>T

1 paper

NM_006302.3

p.Y208C

c.623A>G

12 papers

NM_006302.3

p.D239N

c.715G>A

NM_001146158.2

p.D133N

c.397G>A

1 paper

NM_006302.3

p.R241C

c.721C>T

1 paper

NM_006302.3

p.S198A

c.592T>G

1 paper

NM_006302.3

p.P247Q

c.740C>A

1 paper

NM_006302.3

p.S195*

c.584C>G

1 paper

NM_006302.3

p.Y260*

c.780C>G

1 paper

NM_006302.3

p.Y260*

c.780C>A

1 paper

NM_006302.3

p.N261S

c.782A>G

1 paper

NM_006302.3

p.F263insFs

c.787_788insC