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.K96E

c.286A>G

Surrounding Variants

1 paper

NM_000152.5

p.K96N

c.288G>T

1 paper

NM_000152.5

p.D95N

c.283G>A

1 paper

NM_000152.5

p.P94A

c.280C>G

4 papers

NM_000152.5

p.P94delFs

c.281_282delCT

1 paper

NM_000152.5

p.P94fs

c.280_281fs

2 papers

NM_000152.5

p.T99_A105delFs

c.295_314del20

1 paper

NM_000152.5

p.A93G

c.278C>G

1 paper

NM_000152.5

p.T99_Q100insCTG

c.295_299ins9

1 paper

NM_000152.5

p.A93T

c.277G>A

2 papers

NM_000152.5

p.T99I

c.296C>T

1 paper

NM_000152.5

p.C92Y

c.275G>A

1 paper

NM_000152.5

p.D91G

c.272A>G