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.N261S

c.782A>G

Surrounding Variants

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.F263insFs

c.787_788insC

1 paper

NM_006302.3

p.K278fs

c.832_833fs

1 paper

NM_006302.3

p.K278delFs

c.832_833delTT

1 paper

NM_006302.3

p.R280H

c.839G>A

1 paper

NM_006302.3

p.P289S

c.865C>T

1 paper

NM_006302.3

p.A292fs

c.874_875fs

10 papers

NM_006302.3

p.P293S

c.877C>T

1 paper

NM_006302.3

p.P294fs

c.880_881fs

1 paper

NM_006302.3

p.P294A

c.880C>G

2 papers

NM_006302.3

p.P294L

c.881C>T