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.V642I

c.1924G>A

Surrounding Variants

4 papers

NM_000152.5

p.V642F

c.1924G>T

1 paper

NM_000152.5

p.V642delFs

c.1925delT

3 papers

NM_000152.5

p.L641L

c.1923G>A

1 paper

NM_000152.5

p.L641L

c.1923G>C

4 papers

NM_000152.5

p.V642D

c.1925T>A

1 paper

NM_000152.5

p.L641R

c.1922T>G

4 papers

NM_000152.5

p.L641V

c.1921C>G

68 papers

NM_000152.5

p.G643R

c.1927G>A

46 papers

NM_000152.5

p.G643R

c.1927G>C

2 papers

NM_000152.5

p.G643W

c.1927G>T

2 papers

NM_000152.5

p.G643A

c.1928G>C

5 papers

NM_000152.5

p.V646insFs

c.1936_1937ins7