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.A77P

c.229G>C

Surrounding Variants

31 papers

NM_000152.5

p.P79_C82delFs

c.236_246del11

1 paper

NM_000152.5

p.R76R

c.228A>G

1 paper

NM_000152.5

p.A77G

c.230C>G

1 paper

NM_000152.5

p.A77A

c.231A>T

1 paper

NM_000152.5

p.V78delFs

c.233delT

1 paper

NM_000152.5

p.V78V

c.234G>A

1 paper

NM_000152.5

p.P79delFs

c.235delC

1 paper

NM_000152.5

p.P75T

c.223C>A

5 papers

NM_000152.5

p.P75S

c.223C>T

8 papers

NM_000152.5

p.P79fs

c.235_236fs

1 paper

NM_000152.5

p.R74R

c.222T>C

2 papers

NM_000152.5

p.R74H

c.221G>A