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

7 papers

NM_005908.4

p.Q426*

c.1276C>T

Surrounding Variants

1 paper

NM_005908.4

p.A434G

c.1301C>G

1 paper

NM_005908.4

p.A434A

c.1302A>G

1 paper

NM_005908.4

p.D414G

c.1241A>G

1 paper

NM_005908.4

p.D414A

c.1241A>C

1 paper

NM_005908.4

p.W412*

c.1236G>A

1 paper

NM_005908.4

p.W412*

c.1235G>A

2 papers

NM_005908.4

p.Q439_I440Splc

c.1317+1G>A

1 paper

NM_005908.4

p.V411I

c.1231G>A

1 paper

NM_005908.4

p.M410T

c.1229T>C

1 paper

NM_005908.4

p.I409T

c.1226T>C

1 paper

NM_005908.4

p.D398Y

c.1192G>T

9 papers

NM_005908.4

p.G392E

c.1175G>A