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.Q124*

c.370C>T

Surrounding Variants

1 paper

NM_000152.5

p.G123G

c.369G>C

1 paper

NM_000152.5

p.G123E

c.368G>A

1 paper

NM_000152.5

p.Q124Q

c.372G>A

1 paper

NM_000152.5

p.P125delFs

c.375delC

1 paper

NM_000152.5

p.P125S

c.373C>T

2 papers

NM_000152.5

p.P125L

c.374C>T

2 papers

NM_000152.5

p.M122K

c.365T>A

5 papers

NM_000152.5

p.M122V

c.364A>G

3 papers

NM_000152.5

p.M122delFs

c.365delT

1 paper

NM_000152.5

p.W126fs

c.376_377fs

10 papers

NM_000152.5

p.W126*

c.377G>A

2 papers

NM_000152.5

p.Q121Q

c.363G>A