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.P157S

c.469C>T

Surrounding Variants

1 paper

NM_000152.5

p.P157L

c.470C>T

1 paper

NM_000152.5

p.T158A

c.472A>G

1 paper

NM_000152.5

p.T158T

c.474C>A

3 papers

NM_000152.5

p.R154P

c.461G>C

5 papers

NM_000152.5

p.P161insFs

c.483dupC

10 papers

NM_000152.5

p.P161delFs

c.482_483delCC

1 paper

NM_000152.5

p.T153S

c.457A>T

1 paper

NM_000152.5

p.T153fs

c.457_458fs

1 paper

NM_000152.5

p.P161fs

c.481_482fs

3 papers

NM_000152.5

p.R154_T155del0

c.460_465del6

5 papers

NM_000152.5

p.R154_P157del0

c.461_469del9

1 paper

NM_000152.5

p.L152_T153insFs

c.456_457dupGA