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

60 papers

NM_000152.5

p.C103G

c.307T>G

Surrounding Variants

1 paper

NM_000152.5

p.C103S

c.307T>A

11 papers

NM_000152.5

p.C103R

c.307T>C

1 paper

NM_000152.5

p.C103Y

c.308G>A

1 paper

NM_000152.5

p.Q102_C103insFs

c.306_307insT

5 papers

NM_000152.5

p.C103*

c.309C>A

2 papers

NM_000152.5

p.C103W

c.309C>G

1 paper

NM_000152.5

p.Q102*

c.304C>T

1 paper

NM_000152.5

p.E104_A105insFs

c.312_313insG

1 paper

NM_000152.5

p.Q102delFs

c.304delC

1 paper

NM_000152.5

p.E101insFs

c.302_303insG

1 paper

NM_000152.5

p.A105S

c.313G>T

4 papers

NM_000152.5

p.R106C

c.316C>T