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.L657fs

c.1969_1970fs

Surrounding Variants

2 papers

NM_000152.5

p.L657delFs

c.1969delC

1 paper

NM_000152.5

p.L657L

c.1971G>A

1 paper

NM_000152.5

p.E656*

c.1966G>T

1 paper

NM_000152.5

p.C658R

c.1972T>C

1 paper

NM_000152.5

p.E655K

c.1963G>A

7 papers

NM_000152.5

p.E655del1

c.1963_1964delGAG

3 papers

NM_000152.5

p.S654*

c.1961C>A

4 papers

NM_000152.5

p.S654*

c.1961C>G

5 papers

NM_000152.5

p.S654_E655del1

c.1962_1964delAGA

18 papers

NM_000152.5

p.R660C

c.1978C>T

4 papers

NM_000152.5

p.S654P

c.1960T>C

1 paper

NM_000152.5

p.S654A

c.1960T>G