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

7 papers

NM_000152.5

p.W330G

c.988T>G

Surrounding Variants

11 papers

NM_000152.5

p.W330*

c.989G>A

1 paper

NM_000152.5

p.W330insFs

c.989_990insC

9 papers

NM_000152.5

p.W330*

c.990G>A

1 paper

NM_000152.5

p.S329G

c.985A>G

1 paper

NM_000152.5

p.L328L

c.984T>C

2 papers

NM_000152.5

p.S332insFs

c.994_995insTT

2 papers

NM_000152.5

p.L328P

c.983T>C

1 paper

NM_000152.5

p.L328F

c.982C>T

2 papers

NM_000152.5

p.L328fs

c.982_983fs

1 paper

NM_000152.5

p.S332fs

c.994_995fs

3 papers

NM_000152.5

p.L328_W330delFs

c.982_988del7

1 paper

NM_000152.5

p.A327T

c.979G>A