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

2 papers

NM_002372.4

p.F842L

c.2524T>C

Surrounding Variants

2 papers

NM_002372.4

p.F842L

c.2526T>A

2 papers

NM_002372.4

p.F842L

c.2526T>G

1 paper

NM_002372.4

p.R850L

c.2549G>T

1 paper

NM_002372.4

p.I854L

c.2560A>C

1 paper

NM_002372.4

p.I854L

c.2560A>T

2 papers

NM_002372.4

p.L809P

c.2426T>C

1 paper

NM_002372.4

p.D803N

c.2407G>A

1 paper

NM_002372.4

p.N790Y

c.2368A>T

1 paper

NM_002372.4

p.K776_Q777Splc

c.2329-2A>G

1 paper

NM_002372.4

p.Q771*

c.2311C>T

1 paper

NM_002372.4

p.R768W

c.2302C>T

1 paper

NM_002372.4

p.L766F

c.2298A>C