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

2 papers

NM_000152.5

p.S214A

c.640T>G

Surrounding Variants

2 papers

NM_000152.5

p.S214Y

c.641C>A

1 paper

NM_000152.5

p.S214F

c.641C>T

7 papers

NM_000152.5

p.S214S

c.642C>T

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

3 papers

NM_000152.5

p.F213I

c.637T>A

1 paper

NM_000152.5

p.E212_E216delins

c.635_646delinsCTC

2 papers

NM_000152.5

p.E215D

c.645G>C

1 paper

NM_000152.5

p.E212*

c.634G>T

1 paper

NM_000152.5

p.V211V

c.633G>A

2 papers

NM_000152.5

p.V211M

c.631G>A