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.A698T

c.2092G>A

Surrounding Variants

2 papers

NM_000152.5

p.L699_L701del0

c.2097_2102del6

4 papers

NM_000152.5

p.L699P

c.2096T>C

1 paper

NM_000152.5

p.T700delFs

c.2100delC

2 papers

NM_000152.5

p.M695insFs

c.2084dupT

1 paper

NM_000152.5

p.M695fs

c.2083_2084fs

1 paper

NM_000152.5

p.L701Q

c.2102T>A

2 papers

NM_000152.5

p.L701P

c.2102T>C

1 paper

NM_000152.5

p.R702S

c.2104C>A

1 paper

NM_000152.5

p.R702G

c.2104C>G

27 papers

NM_000152.5

p.R702C

c.2104C>T

1 paper

NM_000152.5

p.A694P

c.2080G>C

4 papers

NM_000152.5

p.A694fs

c.2080_2081fs