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.L565P

c.1694T>C

Surrounding Variants

1 paper

NM_002372.4

p.E558K

c.1672G>A

1 paper

NM_002372.4

p.G574E

c.1721G>A

1 paper

NM_002372.4

p.G574V

c.1721G>T

1 paper

NM_002372.4

p.T554M

c.1661C>T

1 paper

NM_002372.4

p.S550L

c.1649C>T

1 paper

NM_002372.4

p.E529K

c.1585G>A

1 paper

NM_002372.4

p.L525V

c.1573T>G

1 paper

NM_002372.4

p.R499*

c.1495C>T

1 paper

NM_002372.4

p.D492G

c.1475A>G

1 paper

NM_002372.4

p.D492Y

c.1474G>T

2 papers

NM_002372.4

p.Q483Q

c.1449A>G

1 paper

NM_002372.4

p.Q483K

c.1447C>A