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

178 papers

NM_000152.5

p.T175delFs

c.525delT

Surrounding Variants

2 papers

NM_000152.5

p.T175insFs

c.525dupT

15 papers

NM_000152.5

p.T175_E176delFs

c.525_526delTG

1 paper

NM_000152.5

p.T175fs

c.523_524fs

1 paper

NM_000152.5

p.E176insFs

c.526_527insG

1 paper

NM_000152.5

p.E176_R178delFs

c.527_533del7

1 paper

NM_000152.5

p.T175insFs

c.523dupA

7 papers

NM_000152.5

p.E176fs

c.526_527fs

2 papers

NM_000152.5

p.E176*

c.526G>T

23 papers

NM_000152.5

p.E176fs

c.526_527fs

1 paper

NM_000152.5

p.E176A

c.527A>C

2 papers

NM_000152.5

p.E174G

c.521A>G

2 papers

NM_000152.5

p.E176E

c.528G>A