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.G44R

c.130G>C

Surrounding Variants

1 paper

NM_000152.5

p.G44V

c.131G>T

1 paper

NM_000152.5

p.G44G

c.132C>T

1 paper

NM_000152.5

p.S45S

c.135C>G

1 paper

NM_000152.5

p.L42Q

c.125T>A

3 papers

NM_000152.5

p.S46P

c.136T>C

1 paper

NM_000152.5

p.S46A

c.136T>G

1 paper

NM_000152.5

p.P47insFs

c.139dupC

1 paper

NM_000152.5

p.E41E

c.123G>A

1 paper

NM_000152.5

p.E41G

c.122A>G

1 paper

NM_000152.5

p.E41V

c.122A>T

1 paper

NM_000152.5

p.P47S

c.139C>T

1 paper

NM_000152.5

p.R40Q

c.119G>A