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.V544E

c.1631T>A

Surrounding Variants

1 paper

NM_000152.5

p.V544M

c.1630G>A

1 paper

NM_000152.5

p.Y543*

c.1629C>A

3 papers

NM_000152.5

p.Y543*

c.1629C>G

1 paper

NM_000152.5

p.Y543F

c.1628A>T

66 papers

NM_000152.5

p.P545L

c.1634C>T

2 papers

NM_000152.5

p.Y543D

c.1627T>G

4 papers

NM_000152.5

p.P542P

c.1626C>G

2 papers

NM_000152.5

p.G546R

c.1636G>A

4 papers

NM_000152.5

p.G546R

c.1636G>C

1 paper

NM_000152.5

p.G546Splc

c.1636+1G>A

8 papers

NM_000152.5

p.G546Splc

c.1636+1G>C

1 paper

NM_000152.5

p.P542_Y543del0

c.1624_1629del6