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.K887insFs

c.2660_2661insC

Surrounding Variants

1 paper

NM_002372.4

p.D885N

c.2653G>A

1 paper

NM_002372.4

p.R891K

c.2672G>A

1 paper

NM_002372.4

p.Y893*

c.2679T>A

1 paper

NM_002372.4

p.Y893*

c.2679T>G

1 paper

NM_002372.4

p.R876C

c.2626C>T

1 paper

NM_002372.4

p.Y899C

c.2696A>G

1 paper

NM_002372.4

p.R871Q

c.2612G>A

1 paper

NM_002372.4

p.R931C

c.2791C>T

1 paper

NM_002372.4

p.S939S

c.2817A>T

1 paper

NM_002372.4

p.E967Q

c.2899G>C

1 paper

NM_002372.4

p.R981*

c.2941C>T

1 paper

NM_002372.4

p.I982M

c.2946A>G