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.H5L

c.14A>T

Surrounding Variants

1 paper

NM_000152.5

p.P6_P7delFs

c.18_21del4

1 paper

NM_000152.5

p.H5N

c.13C>A

1 paper

NM_000152.5

p.H5Q

c.15C>A

1 paper

NM_000152.5

p.H5Y

c.13C>T

1 paper

NM_000152.5

p.P6T

c.16C>A

1 paper

NM_000152.5

p.P6A

c.16C>G

1 paper

NM_000152.5

p.P6S

c.16C>T

1 paper

NM_000152.5

p.R4S

c.12G>C

1 paper

NM_000152.5

p.R4Fs

c.12delinsCCAFs

1 paper

NM_000152.5

p.P6Q

c.17C>A

2 papers

NM_000152.5

p.P6_S9delFs

c.18_25del8

2 papers

NM_000152.5

p.R4K

c.11G>A