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.S440F

c.1319C>T

Surrounding Variants

1 paper

NM_006302.3

p.V432L

c.1294G>T

1 paper

NM_006302.3

p.V432L

c.1294G>C

1 paper

NM_006302.3

p.W450G

c.1348T>G

1 paper

NM_006302.3

p.P413_F429insFs

c.1239_1287dup49

1 paper

NM_006302.3

p.F429S

c.1286T>C

1 paper

NM_006302.3

p.F429fs

c.1285_1286fs

1 paper

NM_006302.3

p.A427S

c.1279G>T

2 papers

NM_006302.3

p.P413_K423insFs

c.1239_1267dup29

2 papers

NM_006302.3

p.K423insFs

c.1267dupA

1 paper

NM_006302.3

p.G416R

c.1246G>C

1 paper

NM_006302.3

p.G416R

c.1246G>A

2 papers

NM_006302.3

p.I415M

c.1245C>G