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.R401Q

c.1202G>A

Surrounding Variants

1 paper

NM_002372.4

p.L403L

c.1209A>G

1 paper

NM_002372.4

p.L413insFs

c.1238_1239insA

1 paper

NM_002372.4

p.F414fs

c.1240_1241fs

1 paper

NM_002372.4

p.E434A

c.1301A>C

1 paper

NM_002372.4

p.Y448C

c.1343A>G

1 paper

NM_002372.4

p.S453Y

c.1358C>A

1 paper

NM_002372.4

p.S453F

c.1358C>T

1 paper

NM_002372.4

p.G394R

c.1180G>A

1 paper

NM_002372.4

p.G394R

c.1180G>C

1 paper

NM_002372.4

p.G385insFs

c.1154_1155insCC

1 paper

NM_002372.4

p.T359_C360insFs

c.1077_1078insA

2 papers

NM_002372.4

p.T342delFs

c.1024_1025delAC