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

25 papers

NM_000152.5

p.S619R

c.1855A>C

Surrounding Variants

21 papers

NM_000152.5

p.S619N

c.1856G>A

3 papers

NM_000152.5

p.W618*

c.1854G>A

25 papers

NM_000152.5

p.S619R

c.1857C>A

33 papers

NM_000152.5

p.S619R

c.1857C>G

3 papers

NM_000152.5

p.W618*

c.1853G>A

1 paper

NM_000152.5

p.W618insFs

c.1853_1854ins49

1 paper

NM_000152.5

p.S620Y

c.1859C>A

1 paper

NM_000152.5

p.V617A

c.1850T>C

1 paper

NM_000152.5

p.V617fs

c.1849_1850fs

3 papers

NM_000152.5

p.W621G

c.1861T>G

2 papers

NM_000152.5

p.D616E

c.1848C>A

3 papers

NM_000152.5

p.D616_V617insFs

c.1848_1849insT