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.V514delFs

c.1540_1541delAC

Surrounding Variants

1 paper

NM_005908.4

p.T508A

c.1522A>G

1 paper

NM_005908.4

p.S505F

c.1514C>T

9 papers

NM_005908.4

p.S505P

c.1513T>C

4 papers

NM_005908.4

p.R500H

c.1499G>A

1 paper

NM_005908.4

p.Y536C

c.1607A>G

1 paper

NM_005908.4

p.S538R

c.1612A>C

1 paper

NM_005908.4

p.S538R

c.1614T>G

1 paper

NM_005908.4

p.S538R

c.1614T>A

1 paper

NM_005908.4

p.C540W

c.1620C>G

1 paper

NM_005908.4

p.W541R

c.1621T>C

1 paper

NM_005908.4

p.W541R

c.1621T>A

1 paper

NM_005908.4

p.W541*

c.1622G>A