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.Q900H

c.2700G>T

Surrounding Variants

4 papers

NM_000152.5

p.L901Q

c.2702T>A

1 paper

NM_000152.5

p.Q902*

c.2704C>T

5 papers

NM_000152.5

p.K903del1

c.2707_2709delAAG

1 paper

NM_000152.5

p.L899Q

c.2696T>A

3 papers

NM_000152.5

p.Q902delFs

c.2706delG

5 papers

NM_000152.5

p.V906I

c.2716G>A

1 paper

NM_000152.5

p.V906V

c.2718C>T

2 papers

NM_000152.5

p.L907P

c.2720T>C

1 paper

NM_000152.5

p.G908delFs

c.2723delG

1 paper

NM_000152.5

p.G908G

c.2724C>G

3 papers

NM_000152.5

p.V909M

c.2725G>A

1 paper

NM_000152.5

p.A910T

c.2728G>A