Varaico: Literature-Extracted Genetic Variants

MAN2A1

95 papers

RefSeq Summary

This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mous...

Pfam Domains

Glyco_hydro_38Naa 165–499UCSCGlycosyl hydrolases family 38 N-terminal domain

Alpha-mann_midaa 502–606UCSCAlpha mannosidase middle domain

Laman-like_domaa 683–720UCSCLysosomal alpha-mannosidase-like, central domain

Glyco_hydro_38Caa 760–964UCSCGlycosyl hydrolases family 38 C-terminal domain

Gene Aliases

HGNC Name

mannosidase alpha class 2A member 1

HGNC Previous Symbol

MANA2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 109 variants

4 papers

NM_002372.4

p.S1025_S1026del1

c.3075_3077delCTC

3 papers

NM_002372.4

p.D74E

c.222C>A

3 papers

NM_002372.4

p.D74E

c.222C>G

3 papers

NM_002372.4

p.G146R

c.436G>A

3 papers

NM_002372.4

p.G146R

c.436G>C

3 papers

NM_002372.4

p.S1026del1

c.3076_3077delTCA

2 papers

NM_002372.4

p.G151R

c.451G>C

2 papers

NM_002372.4

p.T342delFs

c.1024_1025delAC

2 papers

NM_002372.4

p.R401Q

c.1202G>A

2 papers

NM_002372.4

p.Q483Q

c.1449A>G

2 papers

NM_002372.4

p.L809P

c.2426T>C

2 papers

NM_002372.4

p.F842L

c.2524T>C