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.V38_G44insFs

c.112_130dup19

Surrounding Variants

1 paper

NM_000152.5

p.L36L

c.108G>A

4 papers

NM_000152.5

p.F35S

c.104T>C

1 paper

NM_000152.5

p.P39S

c.115C>T

1 paper

NM_000152.5

p.P39L

c.116C>T

1 paper

NM_000152.5

p.D34A

c.101A>C

2 papers

NM_000152.5

p.R40_P47del8

c.118_140del24

34 papers

NM_000152.5

p.R40*

c.118C>T

1 paper

NM_000152.5

p.D34N

c.100G>A

1 paper

NM_000152.5

p.R40Q

c.119G>A

1 paper

NM_000152.5

p.H33H

c.99T>C

1 paper

NM_000152.5

p.H33_D34ins1

c.99_100insCTG

1 paper

NM_000152.5

p.H33insFs

c.97_98insG