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.G36E

c.107G>A

Surrounding Variants

1 paper

NM_006302.3

p.P37P

c.111G>A

1 paper

NM_006302.3

p.T40M

c.119C>T

1 paper

NM_006302.3

p.G32insFs

c.94_95ins4

1 paper

NM_006302.3

p.G32fs

c.94_95fs

1 paper

NM_006302.3

p.G42R

c.124G>C

1 paper

NM_006302.3

p.G42R

c.124G>A

3 papers

NM_006302.3

p.R29G

c.85C>G

1 paper

NM_006302.3

p.A45S

c.133G>T

1 paper

NM_006302.3

p.A47G

c.140C>G

1 paper

NM_006302.3

p.A23T

c.67G>A

1 paper

NM_006302.3

p.A22V

c.65C>T

7 papers

NM_006302.3

p.A22E

c.65C>A