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

1–12 of 290 variants

14 papers

NM_005908.4

p.T701M

c.2102C>T

12 papers

NM_005908.4

p.R641H

c.1922G>A

10 papers

NM_005908.4

p.R182W

c.544C>T

10 papers

NM_005908.4

p.S719_V720Splc

c.2158-2A>G

9 papers

NM_005908.4

p.V253I

c.757G>A

9 papers

NM_005908.4

p.G392E

c.1175G>A

9 papers

NM_005908.4

p.S505P

c.1513T>C

8 papers

NM_005908.4

p.W466*

c.1397G>A

8 papers

NM_005908.4

p.W466*

c.1398G>A

8 papers

NM_005908.4

p.W858*

c.2574G>A

7 papers

NM_005908.4

p.W231*

c.693G>A

7 papers

NM_005908.4

p.Q426*

c.1276C>T