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

5 papers

NM_000152.5

p.D616Y

c.1846G>T

Surrounding Variants

7 papers

NM_000152.5

p.D616N

c.1846G>A

4 papers

NM_000152.5

p.D616insFs

c.1847dupA

1 paper

NM_000152.5

p.D616fs

c.1846_1847fs

2 papers

NM_000152.5

p.D616insFs

c.1848dupC

5 papers

NM_000152.5

p.D616insFs

c.1847_1848insT

3 papers

NM_000152.5

p.G615G

c.1845G>A

2 papers

NM_000152.5

p.D616E

c.1848C>A

3 papers

NM_000152.5

p.D616_V617insFs

c.1848_1849insT

1 paper

NM_000152.5

p.D616E

c.1848C>G

9 papers

NM_000152.5

p.G615E

c.1844G>A

5 papers

NM_000152.5

p.G615V

c.1844G>T

41 papers

NM_000152.5

p.G615R

c.1843G>A