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.F1024_S1025del2

c.3070_3074del6

Surrounding Variants

4 papers

NM_002372.4

p.S1025_S1026del1

c.3075_3077delCTC

3 papers

NM_002372.4

p.S1026del1

c.3076_3077delTCA

1 paper

NM_002372.4

p.M1020V

c.3058A>G

1 paper

NM_002372.4

p.P1002H

c.3005C>A

1 paper

NM_002372.4

p.V999I

c.2995G>A

1 paper

NM_002372.4

p.I982M

c.2946A>G

1 paper

NM_002372.4

p.R981*

c.2941C>T

1 paper

NM_002372.4

p.E967Q

c.2899G>C

1 paper

NM_002372.4

p.S939S

c.2817A>T

1 paper

NM_002372.4

p.R931C

c.2791C>T