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.A654V

c.1961C>T

Surrounding Variants

1 paper

NM_005908.4

p.L655P

c.1964T>C

1 paper

NM_005908.4

p.G653E

c.1958G>A

1 paper

NM_005908.4

p.M652T

c.1955T>C

1 paper

NM_005908.4

p.Y656C

c.1967A>G

1 paper

NM_005908.4

p.W657C

c.1971G>T

1 paper

NM_005908.4

p.W657C

c.1971G>C

1 paper

NM_005908.4

p.Q648Q

c.1944A>G

1 paper

NM_005908.4

p.V645L

c.1933G>T

1 paper

NM_005908.4

p.V645L

c.1933G>C

12 papers

NM_005908.4

p.R641H

c.1922G>A

4 papers

NM_005908.4

p.R641C

c.1921C>T

1 paper

NM_005908.4

p.R639L

c.1916G>T