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.L375_S378del4

c.1123_1133del12

Surrounding Variants

1 paper

NM_005908.4

p.L374L

c.1122C>T

1 paper

NM_005908.4

p.M384I

c.1152G>T

1 paper

NM_005908.4

p.M384I

c.1152G>C

1 paper

NM_005908.4

p.M384I

c.1152G>A

1 paper

NM_005908.4

p.R373W

c.1117C>T

1 paper

NM_005908.4

p.R388W

c.1162C>T

1 paper

NM_005908.4

p.R388L

c.1163G>T

9 papers

NM_005908.4

p.G392E

c.1175G>A

1 paper

NM_005908.4

p.D398Y

c.1192G>T

1 paper

NM_005908.4

p.I409T

c.1226T>C

1 paper

NM_005908.4

p.M410T

c.1229T>C

1 paper

NM_005908.4

p.V411I

c.1231G>A