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

3 papers

NM_000152.5

p.T149T

c.447G>A

Surrounding Variants

1 paper

NM_000152.5

p.A150T

c.448G>A

1 paper

NM_000152.5

p.A150delFs

c.449delC

1 paper

NM_000152.5

p.T149insFs

c.445_446insT

2 papers

NM_000152.5

p.T149P

c.445A>C

1 paper

NM_000152.5

p.A150G

c.449C>G

1 paper

NM_000152.5

p.A150V

c.449C>T

1 paper

NM_000152.5

p.Y148*

c.444C>A

1 paper

NM_000152.5

p.Y148*

c.444C>G

1 paper

NM_000152.5

p.A150A

c.450C>T

2 papers

NM_000152.5

p.T151A

c.451A>G

1 paper

NM_000152.5

p.G147G

c.441C>G

1 paper

NM_000152.5

p.L152delFs

c.455delT