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.G828insFs

c.2483dupG

Surrounding Variants

1 paper

NM_000152.5

p.Q827_G828Splc

c.2482-2A>G

2 papers

NM_000152.5

p.Q827_G828Splc

c.2482-5T>C

1 paper

NM_000152.5

p.G830fs

c.2488_2489fs

7 papers

NM_000152.5

p.T832delFs

c.2495_2496delCA

1 paper

NM_000152.5

p.T832insFs

c.2494dupA

1 paper

NM_000152.5

p.T832fs

c.2494_2495fs

13 papers

NM_000152.5

p.T834delFs

c.2501_2502delCA

2 papers

NM_000152.5

p.T834fs

c.2500_2501fs

4 papers

NM_000152.5

p.T834fs

c.2500_2501fs

2 papers

NM_000152.5

p.T834_E835insFs

c.2502_2503insA

1 paper

NM_000152.5

p.T834R

c.2501C>G

4 papers

NM_000152.5

p.R837C

c.2509C>T