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

1 paper

NM_006302.3

p.G142D

c.425G>A

Surrounding Variants

1 paper

NM_006302.3

p.E149G

c.446A>G

1 paper

NM_006302.3

p.K132N

c.396G>T

1 paper

NM_006302.3

p.K132N

c.396G>C

1 paper

NM_006302.3

p.D152E

c.456C>G

1 paper

NM_006302.3

p.D152E

c.456C>A

1 paper

NM_006302.3

p.S155F

c.464C>T

1 paper

NM_001146158.2

p.P22Q

c.65C>A

5 papers

NM_006302.3

p.Q124*

c.370C>T

4 papers

NM_006302.3

p.G182R

c.544G>C

4 papers

NM_006302.3

p.G182R

c.544G>A

4 papers

NM_006302.3

p.R110H

c.329G>A

1 paper

NM_006302.3

p.K108insFs

c.323_324insT