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

39 papers

NM_000152.5

p.G309R

c.925G>C

Surrounding Variants

71 papers

NM_000152.5

p.G309R

c.925G>A

1 paper

NM_000152.5

p.G309W

c.925G>T

1 paper

NM_000152.5

p.G309insFs

c.926dupG

2 papers

NM_000152.5

p.H308H

c.924C>T

19 papers

NM_000152.5

p.H308P

c.923A>C

5 papers

NM_000152.5

p.H308L

c.923A>T

3 papers

NM_000152.5

p.V310_F311del1

c.930_932delGTT

4 papers

NM_000152.5

p.A307A

c.921A>T

1 paper

NM_000152.5

p.V310G

c.929T>G

1 paper

NM_000152.5

p.V310delFs

c.930delG

1 paper

NM_000152.5

p.F311del1

c.931_932delTTC

1 paper

NM_000152.5

p.F311insFs

c.932_933insG