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

4 papers

NM_000152.5

p.L398delFs

c.1193delT

Surrounding Variants

3 papers

NM_000152.5

p.L398fs

c.1192_1193fs

3 papers

NM_000152.5

p.L398P

c.1193T>C

9 papers

NM_000152.5

p.P397L

c.1190C>T

4 papers

NM_000152.5

p.L398_D399Splc

c.1194+2T>A

10 papers

NM_000152.5

p.L398_D399Splc

c.1194+2T>C

4 papers

NM_000152.5

p.L398_D399Splc

c.1194+3G>C

4 papers

NM_000152.5

p.L398insFs

c.1192dupC

5 papers

NM_000152.5

p.L398delFs

c.1192delC

9 papers

NM_000152.5

p.L398_D399Splc

c.1194+5G>A

1 paper

NM_000152.5

p.A394T

c.1180G>A

1 paper

NM_000152.5

p.R393G

c.1177A>G

1 paper

NM_000152.5

p.T392P

c.1174A>C