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

12 papers

NM_000152.5

p.H572Q

c.1716C>A

Surrounding Variants

18 papers

NM_000152.5

p.H572Q

c.1716C>G

5 papers

NM_000152.5

p.N573H

c.1717A>C

1 paper

NM_000152.5

p.H572D

c.1714C>G

2 papers

NM_000152.5

p.H572Y

c.1714C>T

2 papers

NM_000152.5

p.N573K

c.1719C>A

2 papers

NM_000152.5

p.N573K

c.1719C>G

1 paper

NM_000152.5

p.H572_L574del3

c.1714_1721del9

7 papers

NM_000152.5

p.L574P

c.1721T>C

1 paper

NM_000152.5

p.Y575_G576del2

c.1723_1727del6

11 papers

NM_000152.5

p.N570K

c.1710C>A

14 papers

NM_000152.5

p.N570K

c.1710C>G

1 paper

NM_000152.5

p.Y575H

c.1723T>C