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.L246delFs

c.736delC

Surrounding Variants

1 paper

NM_000152.5

p.F245F

c.735C>T

2 papers

NM_000152.5

p.L246F

c.736C>T

2 papers

NM_000152.5

p.Q244P

c.731A>C

3 papers

NM_000152.5

p.L246R

c.737T>G

5 papers

NM_000152.5

p.Q244*

c.730C>T

4 papers

NM_000152.5

p.L248delFs

c.742delC

1 paper

NM_000152.5

p.L248fs

c.742_743fs

4 papers

NM_000152.5

p.A242A

c.726G>A

2 papers

NM_000152.5

p.A242V

c.725C>T

9 papers

NM_000152.5

p.L248P

c.743T>C

2 papers

NM_000152.5

p.L248R

c.743T>G

1 paper

NM_000152.5

p.F241S

c.722T>C