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.P707_H708insFs

c.2121_2122insG

Surrounding Variants

1 paper

NM_000152.5

p.P707R

c.2120C>G

2 papers

NM_000152.5

p.P707L

c.2120C>T

1 paper

NM_000152.5

p.H708Y

c.2122C>T

4 papers

NM_000152.5

p.L705P

c.2114T>C

3 papers

NM_000152.5

p.T711P

c.2131A>C

1 paper

NM_000152.5

p.T711A

c.2131A>G

16 papers

NM_000152.5

p.T711R

c.2132C>G

1 paper

NM_000152.5

p.A704T

c.2110G>A

15 papers

NM_000152.5

p.T711T

c.2133A>G

2 papers

NM_000152.5

p.Y703*

c.2109C>A

2 papers

NM_000152.5

p.Y703*

c.2109C>G

3 papers

NM_000152.5

p.Y703delFs

c.2109delC