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

6 papers

NM_005908.4

p.V828I

c.2482G>A

Surrounding Variants

2 papers

NM_005908.4

p.L830W

c.2489T>G

3 papers

NM_005908.4

p.A825S

c.2473G>T

1 paper

NM_005908.4

p.A825T

c.2473G>A

1 paper

NM_005908.4

p.D831G

c.2492A>G

1 paper

NM_005908.4

p.V824D

c.2471T>A

1 paper

NM_005908.4

p.D818delFs

c.2452delC

1 paper

NM_005908.4

p.D818fs

c.2452_2453fs

1 paper

NM_005908.4

p.F817S

c.2450T>C

1 paper

NM_005908.4

p.F839C

c.2516T>G

1 paper

NM_005908.4

p.G812A

c.2435G>C

1 paper

NM_005908.4

p.Q810Q

c.2430G>A

1 paper

NM_005908.4

p.M846L

c.2536A>T