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.Y477C

c.1430A>G

Surrounding Variants

1 paper

NM_005908.4

p.I476V

c.1426A>G

1 paper

NM_005908.4

p.R474Q

c.1421G>A

1 paper

NM_005908.4

p.D480G

c.1439A>G

1 paper

NM_005908.4

p.D480D

c.1440C>T

1 paper

NM_005908.4

p.R474W

c.1420C>T

1 paper

NM_005908.4

p.Y481S

c.1442A>C

1 paper

NM_005908.4

p.L484fs

c.1450_1451fs

3 papers

NM_005908.4

p.L484_Y485delFs

c.1452_1453delAG

2 papers

NM_005908.4

p.Y485*

c.1455T>G

2 papers

NM_005908.4

p.Y485*

c.1455T>A

2 papers

NM_005908.4

p.Y485delFs

c.1454_1455delAT

1 paper

NM_005908.4

p.Y467delFs

c.1400delT