Varaico: Literature-Extracted Genetic Variants

MANBA

176 papers

RefSeq Summary

This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosacchari...

Pfam Domains

Glyco_hydro_2_N2aa 29–203UCSCGlycosyl hydrolase 2 galactose-binding domain-like

Glyco_hydro_2_Caa 340–577UCSCGlycosyl hydrolases family 2, TIM barrel domain

Mannosidase_igaa 700–795UCSCMannosidase Ig/CBM-like domain

Ig_mannosidaseaa 799–878UCSCIg-fold domain

Gene Aliases

HGNC Name

mannosidase beta

HGNC Previous Name

mannosidase, beta A, lysosomal

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005908.4

p.R143delFs

c.427delG

Surrounding Variants

1 paper

NM_005908.4

p.R143fs

c.427_428fs

1 paper

NM_005908.4

p.F144Y

c.431T>A

1 paper

NM_005908.4

p.E141D

c.423G>T

1 paper

NM_005908.4

p.E141D

c.423G>C

1 paper

NM_005908.4

p.Q145R

c.434A>G

1 paper

NM_005908.4

p.Q145P

c.434A>C

1 paper

NM_005908.4

p.E141A

c.422A>C

1 paper

NM_005908.4

p.E141K

c.421G>A

1 paper

NM_005908.4

p.I140T

c.419T>C

1 paper

NM_005908.4

p.N138K

c.414C>G

1 paper

NM_005908.4

p.N138K

c.414C>A

1 paper

NM_005908.4

p.A157P

c.469G>C