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

2 papers

NM_000152.5

p.Y354fs

c.1060_1061fs

Surrounding Variants

2 papers

NM_000152.5

p.Y354delFs

c.1061delA

8 papers

NM_000152.5

p.Y354*

c.1062C>A

11 papers

NM_000152.5

p.Y354*

c.1062C>G

7 papers

NM_000152.5

p.Q353*

c.1057C>T

1 paper

NM_000152.5

p.Q353fs

c.1057_1058fs

2 papers

NM_000152.5

p.Q353delFs

c.1057delC

2 papers

NM_000152.5

p.Q353delFs

c.1057_1058delCA

42 papers

NM_000152.5

p.L355P

c.1064T>C

1 paper

NM_000152.5

p.Q352R

c.1055A>G

1 paper

NM_000152.5

p.Q352K

c.1054C>A

1 paper

NM_000152.5

p.Q352E

c.1054C>G

2 papers

NM_000152.5

p.Q352*

c.1054C>T