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.H681Y

c.2041C>T

Surrounding Variants

1 paper

NM_005908.4

p.M679I

c.2037G>T

1 paper

NM_005908.4

p.M679I

c.2037G>C

1 paper

NM_005908.4

p.M679I

c.2037G>A

1 paper

NM_005908.4

p.Q685*

c.2053C>T

1 paper

NM_005908.4

p.F687L

c.2059T>C

1 paper

NM_005908.4

p.F687L

c.2061C>G

1 paper

NM_005908.4

p.F687L

c.2061C>A

2 papers

NM_005908.4

p.E672Splc

c.2015-2A>G

1 paper

NM_005908.4

p.E672Splc

c.2015-28G>A

14 papers

NM_005908.4

p.T701M

c.2102C>T

1 paper

NM_005908.4

p.Y705C

c.2114A>G

1 paper

NM_005908.4

p.E672Splc

c.2015-55G>A