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.L231P

c.692T>C

Surrounding Variants

2 papers

NM_000152.5

p.L231L

c.691C>T

3 papers

NM_000152.5

p.L231Splc

c.692+1G>A

10 papers

NM_000152.5

p.L231Splc

c.692+1G>C

3 papers

NM_000152.5

p.L231Splc

c.692+1G>T

1 paper

NM_000152.5

p.L231Splc

c.692+2T>C

1 paper

NM_000152.5

p.L231Splc

c.692+3G>C

1 paper

NM_000152.5

p.V230M

c.688G>A

1 paper

NM_000152.5

p.V230L

c.688G>T

10 papers

NM_000152.5

p.L231Splc

c.692+5G>T

1 paper

NM_000152.5

p.R229H

c.686G>A

2 papers

NM_000152.5

p.R229P

c.686G>C

3 papers

NM_000152.5

p.R229insFs

c.686_687ins4