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

85 papers

NM_000152.5

p.W746*

c.2237G>A

Surrounding Variants

19 papers

NM_000152.5

p.W746S

c.2237G>C

6 papers

NM_000152.5

p.W746L

c.2237G>T

60 papers

NM_000152.5

p.W746*

c.2238G>A

93 papers

NM_000152.5

p.W746C

c.2238G>C

65 papers

NM_000152.5

p.W746C

c.2238G>T

6 papers

NM_000152.5

p.W746R

c.2236T>A

11 papers

NM_000152.5

p.W746R

c.2236T>C

6 papers

NM_000152.5

p.W746G

c.2236T>G

1 paper

NM_000152.5

p.W746insFs

c.2236_2237insA

14 papers

NM_000152.5

p.E748insFs

c.2242dupG

2 papers

NM_000152.5

p.E748delFs

c.2242delG

2 papers

NM_000152.5

p.W746fs

c.2236_2237fs