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.T286_P287Splc

c.858+6G>A

Surrounding Variants

4 papers

NM_000152.5

p.T286_P287Splc

c.858+8G>A

3 papers

NM_000152.5

p.T286_P287Splc

c.858+2T>A

1 paper

NM_000152.5

p.T286T

c.858G>A

1 paper

NM_000152.5

p.T286M

c.857C>T

1 paper

NM_000152.5

p.P285P

c.855C>A

1 paper

NM_000152.5

p.P285P

c.855C>G

12 papers

NM_000152.5

p.P285R

c.854C>G

11 papers

NM_000152.5

p.P285S

c.853C>T

3 papers

NM_000152.5

p.A284A

c.852G>A

1 paper

NM_000152.5

p.A284G

c.851C>G

1 paper

NM_000152.5

p.A284V

c.851C>T

1 paper

NM_000152.5

p.A284T

c.850G>A