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

3 papers

NM_000152.5

p.Q663fs

c.1987_1988fs

Surrounding Variants

2 papers

NM_000152.5

p.Q663*

c.1987C>T

6 papers

NM_000152.5

p.Q663delFs

c.1987delC

5 papers

NM_000152.5

p.G665R

c.1993G>A

5 papers

NM_000152.5

p.G665R

c.1993G>C

4 papers

NM_000152.5

p.W661G

c.1981T>G

2 papers

NM_000152.5

p.G665E

c.1994G>A

35 papers

NM_000152.5

p.R660H

c.1979G>A

18 papers

NM_000152.5

p.R660C

c.1978C>T

1 paper

NM_000152.5

p.A666A

c.1998C>T

1 paper

NM_000152.5

p.C658R

c.1972T>C

6 papers

NM_000152.5

p.Y668C

c.2003A>G

1 paper

NM_000152.5

p.P669delFs

c.2007delC