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

3 papers

NM_000152.5

p.R281Q

c.842G>A

Surrounding Variants

1 paper

NM_000152.5

p.R281P

c.842G>C

2 papers

NM_000152.5

p.R281L

c.842G>T

1 paper

NM_000152.5

p.R281fs

c.841_842fs

14 papers

NM_000152.5

p.R281W

c.841C>T

1 paper

NM_000152.5

p.N280N

c.840C>T

2 papers

NM_000152.5

p.D282H

c.844G>C

1 paper

NM_000152.5

p.D282Y

c.844G>T

1 paper

NM_000152.5

p.N280insFs

c.839_840insCC

1 paper

NM_000152.5

p.N280_R281ins0

c.840_842dupCCG

1 paper

NM_000152.5

p.R281_D282del2

c.841_845del6

2 papers

NM_000152.5

p.W279*

c.837G>A

2 papers

NM_000152.5

p.W279C

c.837G>C