Varaico: Literature-Extracted Genetic Variants

GAA

1,291 papers

RefSeq Summary

This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple i...

Pfam Domains

Trefoilaa 82–130UCSCTrefoil (P-type) domain

Gal_mutarotas_2aa 155–320UCSCGlycosyl hydrolase 31 N-terminal galactose mutarotase-like domain

Glyco_hydro_31_2ndaa 361–712UCSCGlycosyl hydrolases family 31 TIM-barrel domain

Glyco_hydro_31_3rdaa 720–824UCSCGlycosyl hydrolase family 31 C-terminal domain

Gene Aliases

HGNC Name

alpha glucosidase

HGNC Previous Names

glucosidase, alpha; acid; glucosidase alpha, acid

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

17 papers

NM_000152.5

p.L291P

c.872T>C

Surrounding Variants

2 papers

NM_000152.5

p.L291H

c.872T>A

13 papers

NM_000152.5

p.L291F

c.871C>T

1 paper

NM_000152.5

p.Y292H

c.874T>C

30 papers

NM_000152.5

p.Y292C

c.875A>G

2 papers

NM_000152.5

p.N290I

c.869A>T

1 paper

NM_000152.5

p.N290H

c.868A>C

6 papers

NM_000152.5

p.N290D

c.868A>G

3 papers

NM_000152.5

p.Y292*

c.876C>A

4 papers

NM_000152.5

p.Y292*

c.876C>G

28 papers

NM_000152.5

p.G293R

c.877G>A

18 papers

NM_000152.5

p.G293R

c.877G>C

1 paper

NM_000152.5

p.G293W

c.877G>T