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

16 papers

NM_000152.5

p.A610V

c.1829C>T

Surrounding Variants

5 papers

NM_000152.5

p.A610A

c.1830C>T

5 papers

NM_000152.5

p.G611_W613delFs

c.1833_1839del7

4 papers

NM_000152.5

p.A610T

c.1828G>A

19 papers

NM_000152.5

p.Y609*

c.1827C>A

23 papers

NM_000152.5

p.Y609*

c.1827C>G

2 papers

NM_000152.5

p.G611S

c.1831G>A

17 papers

NM_000152.5

p.Y609delFs

c.1827delC

13 papers

NM_000152.5

p.G611D

c.1832G>A

1 paper

NM_000152.5

p.G611V

c.1832G>T

3 papers

NM_000152.5

p.Y609D

c.1825T>G

21 papers

NM_000152.5

p.Y609insFs

c.1826dupA

1 paper

NM_000152.5

p.Y609fs

c.1825_1826fs