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

2 papers

NM_000152.5

p.G288S

c.862G>A

Surrounding Variants

1 paper

NM_000152.5

p.G288fs

c.862_863fs

3 papers

NM_000152.5

p.P287P

c.861C>T

1 paper

NM_000152.5

p.G288delFs

c.863delG

1 paper

NM_000152.5

p.G288insFs

c.864dupT

1 paper

NM_000152.5

p.P287L

c.860C>T

1 paper

NM_000152.5

p.A289T

c.865G>A

1 paper

NM_000152.5

p.T286_P287Splc

c.859-1G>C

6 papers

NM_000152.5

p.T286_P287Splc

c.859-2A>T

1 paper

NM_000152.5

p.N290H

c.868A>C

6 papers

NM_000152.5

p.N290D

c.868A>G

2 papers

NM_000152.5

p.N290I

c.869A>T

13 papers

NM_000152.5

p.L291F

c.871C>T