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.W126fs

c.376_377fs

Surrounding Variants

10 papers

NM_000152.5

p.W126*

c.377G>A

14 papers

NM_000152.5

p.C127delFs

c.379_380delTG

2 papers

NM_000152.5

p.P125L

c.374C>T

10 papers

NM_000152.5

p.W126*

c.378G>A

1 paper

NM_000152.5

p.P125S

c.373C>T

3 papers

NM_000152.5

p.C127fs

c.379_380fs

1 paper

NM_000152.5

p.C127fs

c.379_380fs

3 papers

NM_000152.5

p.C127Y

c.380G>A

1 paper

NM_000152.5

p.Q124Q

c.372G>A

5 papers

NM_000152.5

p.C127F

c.380G>T

1 paper

NM_000152.5

p.P125delFs

c.375delC

1 paper

NM_000152.5

p.F129del1

c.385_386delTTC