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

3 papers

NM_006302.3

p.G824D

c.2471G>A

Surrounding Variants

2 papers

NM_006302.3

p.G824S

c.2470G>A

1 paper

NM_006302.3

p.W825C

c.2475G>T

1 paper

NM_006302.3

p.W825C

c.2475G>C

2 papers

NM_006302.3

p.T802I

c.2405C>T

1 paper

NM_006302.3

p.L787_R788insC

c.2359_2363ins3

3 papers

NM_006302.3

p.G785S

c.2353G>A

2 papers

NM_006302.3

p.R779Q

c.2336G>A

1 paper

NM_006302.3

p.L766L

c.2298C>A

3 papers

NM_006302.3

p.G752D

c.2255G>A

1 paper

NM_006302.3

p.L713P

c.2138T>C

1 paper

NM_006302.3

p.L709P

c.2126T>C

1 paper

NM_006302.3

p.R700*

c.2098C>T