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.Y110*

c.330C>G

Surrounding Variants

1 paper

NM_000152.5

p.Y110*

c.330C>A

1 paper

NM_000152.5

p.C109*

c.327C>A

11 papers

NM_000152.5

p.C108C

c.324T>C

7 papers

NM_000152.5

p.C108Y

c.323G>A

4 papers

NM_000152.5

p.C108S

c.323G>C

1 paper

NM_000152.5

p.C108delins

c.323_324delinsAC

1 paper

NM_000152.5

p.A113G

c.338C>G

2 papers

NM_000152.5

p.C108S

c.322T>A

2 papers

NM_000152.5

p.C108G

c.322T>G

9 papers

NM_000152.5

p.K114insFs

c.340_341insT

1 paper

NM_000152.5

p.K114Q

c.340A>C

2 papers

NM_000152.5

p.K114fs

c.340_341fs