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

41 papers

NM_000152.5

p.G219R

c.655G>C

Surrounding Variants

58 papers

NM_000152.5

p.G219R

c.655G>A

2 papers

NM_000152.5

p.G219E

c.656G>A

2 papers

NM_000152.5

p.V220L

c.658G>C

2 papers

NM_000152.5

p.V220L

c.658G>T

5 papers

NM_000152.5

p.P217L

c.650C>T

1 paper

NM_000152.5

p.I221I

c.663C>A

14 papers

NM_000152.5

p.V222M

c.664G>A

2 papers

NM_000152.5

p.E215D

c.645G>C

3 papers

NM_000152.5

p.V222G

c.665T>G

3 papers

NM_000152.5

p.E215K

c.643G>A

1 paper

NM_000152.5

p.E215Q

c.643G>C

1 paper

NM_000152.5

p.E215*

c.643G>T