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

9 papers

NM_000152.5

p.L248P

c.743T>C

Surrounding Variants

2 papers

NM_000152.5

p.L248R

c.743T>G

1 paper

NM_000152.5

p.L248fs

c.742_743fs

4 papers

NM_000152.5

p.L248delFs

c.742delC

3 papers

NM_000152.5

p.L246R

c.737T>G

2 papers

NM_000152.5

p.L246F

c.736C>T

1 paper

NM_000152.5

p.F245F

c.735C>T

1 paper

NM_000152.5

p.S251T

c.751T>A

2 papers

NM_000152.5

p.S251A

c.751T>G

1 paper

NM_000152.5

p.S251insFs

c.752_753insT

34 papers

NM_000152.5

p.S251L

c.752C>T

1 paper

NM_000152.5

p.S251_S254delins

c.752_761delinsTGCTGCCCTT

1 paper

NM_000152.5

p.L246delFs

c.736delC