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.K114Q

c.340A>C

Surrounding Variants

9 papers

NM_000152.5

p.K114insFs

c.340_341insT

2 papers

NM_000152.5

p.K114fs

c.340_341fs

2 papers

NM_000152.5

p.K114insFs

c.341_342insT

1 paper

NM_000152.5

p.A113G

c.338C>G

3 papers

NM_000152.5

p.Q115*

c.343C>T

2 papers

NM_000152.5

p.G116A

c.347G>C

1 paper

NM_000152.5

p.L117M

c.349C>A

1 paper

NM_000152.5

p.Y110*

c.330C>A

1 paper

NM_000152.5

p.Y110*

c.330C>G

2 papers

NM_000152.5

p.Q118*

c.352C>T

1 paper

NM_000152.5

p.C109*

c.327C>A

1 paper

NM_000152.5

p.Q118Q

c.354G>A