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.D319G

c.956A>G

Surrounding Variants

2 papers

NM_000152.5

p.D319Splc

c.956-1G>C

1 paper

NM_000152.5

p.V320V

c.960G>T

1 paper

NM_000152.5

p.V321insFs

c.961_962insC

1 paper

NM_000152.5

p.D319Splc

c.956-6T>C

1 paper

NM_000152.5

p.L322Q

c.965T>A

1 paper

NM_000152.5

p.Q323R

c.968A>G

3 papers

NM_000152.5

p.P324insFs

c.971dupC

5 papers

NM_000152.5

p.P324L

c.971C>T

1 paper

NM_000152.5

p.S325fs

c.973_974fs

1 paper

NM_000152.5

p.A327T

c.979G>A

3 papers

NM_000152.5

p.L328_W330delFs

c.982_988del7

1 paper

NM_000152.5

p.L328F

c.982C>T