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

2 papers

NM_000152.5

p.Q682R

c.2045A>G

Surrounding Variants

1 paper

NM_000152.5

p.P681H

c.2042C>A

1 paper

NM_000152.5

p.P681R

c.2042C>G

1 paper

NM_000152.5

p.P684delFs

c.2050delC

7 papers

NM_000152.5

p.L680_P681Splc

c.2041-1G>A

3 papers

NM_000152.5

p.L680_P681Splc

c.2041-2A>C

2 papers

NM_000152.5

p.L680_P681Splc

c.2041-2A>G

5 papers

NM_000152.5

p.P684Q

c.2051C>A

5 papers

NM_000152.5

p.P684R

c.2051C>G

7 papers

NM_000152.5

p.P684L

c.2051C>T

2 papers

NM_000152.5

p.Y685_S686ins4

c.2053_2057ins12

1 paper

NM_000152.5

p.L680_P681Splc

c.2041-5T>G

10 papers

NM_000152.5

p.Y685*

c.2055C>A