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

2 papers

NM_005908.4

p.H177H

c.531T>C

Surrounding Variants

3 papers

NM_005908.4

p.H177R

c.530A>G

1 paper

NM_005908.4

p.V178G

c.533T>G

10 papers

NM_005908.4

p.R182W

c.544C>T

2 papers

NM_005908.4

p.R182Q

c.545G>A

1 paper

NM_005908.4

p.Q172*

c.514C>T

1 paper

NM_005908.4

p.K183_E184Splc

c.549+1G>A

1 paper

NM_005908.4

p.P168L

c.503C>T

1 paper

NM_005908.4

p.P168S

c.502C>T

1 paper

NM_005908.4

p.V163I

c.487G>A

1 paper

NM_005908.4

p.R160H

c.479G>A

1 paper

NM_005908.4

p.R160C

c.478C>T

1 paper

NM_005908.4

p.T159A

c.475A>G