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

5 papers

NM_006302.3

p.D566E

c.1698C>G

Surrounding Variants

5 papers

NM_006302.3

p.D566E

c.1698C>A

3 papers

NM_006302.3

p.R565Q

c.1694G>A

2 papers

NM_006302.3

p.R561C

c.1681C>T

1 paper

NM_006302.3

p.P575S

c.1723C>T

2 papers

NM_006302.3

p.D584A

c.1751A>C

1 paper

NM_006302.3

p.S589L

c.1766C>T

1 paper

NM_006302.3

p.P591S

c.1771C>T

4 papers

NM_006302.3

p.R540H

c.1619G>A

1 paper

NM_006302.3

p.R596Q

c.1787G>A

1 paper

NM_006302.3

p.R535Q

c.1604G>A

5 papers

NM_006302.3

p.R535*

c.1603C>T

2 papers

NM_006302.3

p.D599H

c.1795G>C