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

2 papers

NM_000152.5

p.V19M

c.55G>A

Surrounding Variants

2 papers

NM_000152.5

p.L18L

c.54C>T

1 paper

NM_000152.5

p.V19A

c.56T>C

1 paper

NM_000152.5

p.L18delFs

c.54delC

1 paper

NM_000152.5

p.S20Y

c.59C>A

1 paper

NM_000152.5

p.A17_L18insFs

c.51_52insA

1 paper

NM_000152.5

p.L18_L21del4

c.52_62del12

2 papers

NM_000152.5

p.L18_A25del8

c.52_74del24

1 paper

NM_000152.5

p.S20S

c.60C>T

1 paper

NM_000152.5

p.A17T

c.49G>A

1 paper

NM_000152.5

p.L18delFs

c.52delC

1 paper

NM_000152.5

p.A22_A24delFs

c.64_71del8

1 paper

NM_000152.5

p.A22T

c.64G>A