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

1 paper

NM_000152.5

p.L26_L27delFs

c.77_81del5

Surrounding Variants

2 papers

NM_000152.5

p.L26_L27insFs

c.78_79insT

1 paper

NM_000152.5

p.L26L

c.78C>T

1 paper

NM_000152.5

p.A25fs

c.73_74fs

2 papers

NM_000152.5

p.A24A

c.72T>C

1 paper

NM_000152.5

p.G28insFs

c.84dupG

1 paper

NM_000152.5

p.A24T

c.70G>A

1 paper

NM_000152.5

p.A25_L26delFs

c.73_77del5

1 paper

NM_000152.5

p.G28E

c.83G>A

1 paper

NM_000152.5

p.H29delFs

c.87delC

1 paper

NM_000152.5

p.I30delFs

c.88_89delAT

1 paper

NM_000152.5

p.A22T

c.64G>A

1 paper

NM_000152.5

p.A22_A24delFs

c.64_71del8