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

Selected Variant

1 paper

NM_002372.4

p.H101H

c.303T>C

Surrounding Variants

1 paper

NM_002372.4

p.G97S

c.289G>A

1 paper

NM_002372.4

p.A114V

c.341C>T

1 paper

NM_002372.4

p.H125R

c.374A>G

3 papers

NM_002372.4

p.D74E

c.222C>A

3 papers

NM_002372.4

p.D74E

c.222C>G

1 paper

NM_002372.4

p.Q130H

c.390G>C

1 paper

NM_002372.4

p.L58fs

c.172_173fs

1 paper

NM_002372.4

p.G46S

c.136G>A

1 paper

NM_002372.4

p.D144N

c.430G>A

3 papers

NM_002372.4

p.G146R

c.436G>A

3 papers

NM_002372.4

p.G146R

c.436G>C

2 papers

NM_002372.4

p.G151R

c.451G>C