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.F181delFs

c.543delC

Surrounding Variants

1 paper

NM_000152.5

p.F181C

c.542T>G

3 papers

NM_000152.5

p.F181fs

c.541_542fs

1 paper

NM_000152.5

p.H180_F181insFs

c.540_541insA

1 paper

NM_000152.5

p.F181insFs

c.542dupT

2 papers

NM_000152.5

p.T182R

c.545C>G

2 papers

NM_000152.5

p.H180N

c.538C>A

18 papers

NM_000152.5

p.T182T

c.546G>A

12 papers

NM_000152.5

p.T182T

c.546G>C

34 papers

NM_000152.5

p.T182T

c.546G>T

4 papers

NM_000152.5

p.F181_T182delFs

c.541_545del5

8 papers

NM_000152.5

p.T182_I183Splc

c.546+1G>T

1 paper

NM_000152.5

p.L179H

c.536T>A