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

9 papers

NM_006302.3

p.F652L

c.1956T>G

Surrounding Variants

9 papers

NM_006302.3

p.F652L

c.1956T>A

9 papers

NM_006302.3

p.F652L

c.1954T>C

1 paper

NM_006302.3

p.P647S

c.1939C>T

1 paper

NM_006302.3

p.A661T

c.1981G>A

1 paper

NM_006302.3

p.Q670*

c.2008C>T

3 papers

NM_006302.3

p.V673I

c.2017G>A

1 paper

NM_006302.3

p.A632G

c.1895C>G

2 papers

NM_006302.3

p.R678W

c.2032C>T

1 paper

NM_006302.3

p.Y685Y

c.2055T>C

1 paper

NM_006302.3

p.V686I

c.2056G>A

1 paper

NM_006302.3

p.H617Q

c.1851T>G

1 paper

NM_006302.3

p.H617Q

c.1851T>A