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

1–12 of 2125 variants

178 papers

NM_000152.5

p.T175delFs

c.525delT

168 papers

NM_000152.5

p.D645E

c.1935C>A

157 papers

NM_000152.5

p.R854*

c.2560C>T

137 papers

NM_000152.5

p.D645E

c.1935C>G

123 papers

NM_000152.5

p.G576S

c.1726G>A

103 papers

NM_000152.5

p.E689K

c.2065G>A

98 papers

NM_000152.5

p.L552P

c.1655T>C

93 papers

NM_000152.5

p.W746C

c.2238G>C

85 papers

NM_000152.5

p.W746*

c.2237G>A

77 papers

NM_000152.5

p.D645N

c.1933G>A

71 papers

NM_000152.5

p.G309R

c.925G>A

68 papers

NM_000152.5

p.G643R

c.1927G>A