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.E302_D303insG

c.904_908ins3

Surrounding Variants

1 paper

NM_000152.5

p.L301P

c.902T>C

1 paper

NM_000152.5

p.L301V

c.901C>G

1 paper

NM_000152.5

p.L301L

c.901C>T

1 paper

NM_000152.5

p.D303N

c.907G>A

1 paper

NM_000152.5

p.A300A

c.900G>A

1 paper

NM_000152.5

p.A300A

c.900G>C

1 paper

NM_000152.5

p.D303D

c.909C>T

23 papers

NM_000152.5

p.L299P

c.896T>C

5 papers

NM_000152.5

p.L299R

c.896T>G

1 paper

NM_000152.5

p.L299L

c.895C>T

2 papers

NM_000152.5

p.G305R

c.913G>A

2 papers

NM_000152.5

p.G305R

c.913G>C