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.Y637C

c.1910A>G

Surrounding Variants

1 paper

NM_005908.4

p.Y637S

c.1910A>C

1 paper

NM_005908.4

p.R638C

c.1912C>T

6 papers

NM_005908.4

p.R638H

c.1913G>A

1 paper

NM_005908.4

p.R639L

c.1916G>T

2 papers

NM_005908.4

p.E635G

c.1904A>G

4 papers

NM_005908.4

p.R641C

c.1921C>T

12 papers

NM_005908.4

p.R641H

c.1922G>A

1 paper

NM_005908.4

p.V630I

c.1888G>A

1 paper

NM_005908.4

p.V645L

c.1933G>T

1 paper

NM_005908.4

p.V645L

c.1933G>C

1 paper

NM_005908.4

p.C629R

c.1885T>C

1 paper

NM_005908.4

p.Q648Q

c.1944A>G