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

3 papers

NM_000152.5

p.H612P

c.1835A>C

Surrounding Variants

3 papers

NM_000152.5

p.H612R

c.1835A>G

6 papers

NM_000152.5

p.H612Q

c.1836C>A

2 papers

NM_000152.5

p.H612N

c.1834C>A

7 papers

NM_000152.5

p.H612Q

c.1836C>G

6 papers

NM_000152.5

p.H612Y

c.1834C>T

3 papers

NM_000152.5

p.W613G

c.1837T>G

13 papers

NM_000152.5

p.G611D

c.1832G>A

1 paper

NM_000152.5

p.W613*

c.1838G>A

1 paper

NM_000152.5

p.G611V

c.1832G>T

4 papers

NM_000152.5

p.W613*

c.1839G>A

2 papers

NM_000152.5

p.G611S

c.1831G>A

3 papers

NM_000152.5

p.W613C

c.1839G>C