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.N140Y

c.418A>T

Surrounding Variants

1 paper

NM_000152.5

p.N140delFs

c.419delA

1 paper

NM_000152.5

p.E139A

c.416A>C

3 papers

NM_000152.5

p.N140K

c.420C>A

2 papers

NM_000152.5

p.N140K

c.420C>G

4 papers

NM_000152.5

p.L141M

c.421C>A

1 paper

NM_000152.5

p.L141insFs

c.421_422insG

1 paper

NM_000152.5

p.L141V

c.421C>G

1 paper

NM_000152.5

p.L141L

c.421C>T

1 paper

NM_000152.5

p.E139Q

c.415G>C

9 papers

NM_000152.5

p.S142_G147delFs

c.424_440del17

4 papers

NM_000152.5

p.S142fs

c.424_425fs

2 papers

NM_000152.5

p.L138M

c.412C>A