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.P194insFs

c.580_581insC

Surrounding Variants

1 paper

NM_000152.5

p.P194delFs

c.582delC

1 paper

NM_000152.5

p.P194A

c.580C>G

1 paper

NM_000152.5

p.P194R

c.581C>G

1 paper

NM_000152.5

p.P194L

c.581C>T

1 paper

NM_000152.5

p.L195delFs

c.583delT

2 papers

NM_000152.5

p.E192D

c.576G>C

2 papers

NM_000152.5

p.E192D

c.576G>T

2 papers

NM_000152.5

p.E192K

c.574G>A

1 paper

NM_000152.5

p.E192*

c.574G>T

1 paper

NM_000152.5

p.L195*

c.584T>A

12 papers

NM_000152.5

p.Y191*

c.573C>A

8 papers

NM_000152.5

p.Y191*

c.573C>G