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

10 papers

NM_005908.4

p.S719_V720Splc

c.2158-2A>G

Surrounding Variants

2 papers

NM_005908.4

p.V731M

c.2191G>A

1 paper

NM_005908.4

p.V731A

c.2192T>C

2 papers

NM_005908.4

p.R734H

c.2201G>A

1 paper

NM_005908.4

p.T736I

c.2207C>T

7 papers

NM_005908.4

p.L749H

c.2246T>A

1 paper

NM_005908.4

p.V754delFs

c.2260delC

1 paper

NM_005908.4

p.R760*

c.2278A>T

1 paper

NM_005908.4

p.C761S

c.2281T>A

5 papers

NM_005908.4

p.R766W

c.2296C>T

1 paper

NM_005908.4

p.V771F

c.2311G>T

1 paper

NM_005908.4

p.V771I

c.2311G>A

1 paper

NM_005908.4

p.P784R

c.2351C>G