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.D527E

c.1581C>G

Surrounding Variants

2 papers

NM_006302.3

p.D527E

c.1581C>A

5 papers

NM_006302.3

p.R535*

c.1603C>T

1 paper

NM_001146158.2

p.A404_V413insFs

c.1212_1239dup28

1 paper

NM_006302.3

p.R535Q

c.1604G>A

4 papers

NM_006302.3

p.R540H

c.1619G>A

2 papers

NM_006302.3

p.P513S

c.1537C>T

1 paper

NM_006302.3

p.A507V

c.1520C>T

2 papers

NM_006302.3

p.Q505del1

c.1513_1514delTTG

4 papers

NM_006302.3

p.R495Q

c.1484G>A

7 papers

NM_006302.3

p.R495*

c.1483C>T

2 papers

NM_006302.3

p.R561C

c.1681C>T

1 paper

NM_006302.3

p.D492N

c.1474G>A