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

1–12 of 156 variants

11 papers

NM_006302.3

p.D239N

c.715G>A

10 papers

NM_006302.3

p.P293S

c.877C>T

10 papers

NM_006302.3

p.R486T

c.1457G>C

9 papers

NM_006302.3

p.F652L

c.1954T>C

9 papers

NM_006302.3

p.F652L

c.1956T>G

9 papers

NM_006302.3

p.F652L

c.1956T>A

7 papers

NM_006302.3

p.A22E

c.65C>A

7 papers

NM_006302.3

p.R495*

c.1483C>T

5 papers

NM_006302.3

p.Q124*

c.370C>T

5 papers

NM_006302.3

p.R535*

c.1603C>T

5 papers

NM_006302.3

p.D566E

c.1698C>G

5 papers

NM_006302.3

p.D566E

c.1698C>A