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

2 papers

NM_000152.5

p.S144_E145insFs

c.432_433insA

Surrounding Variants

1 paper

NM_000152.5

p.S144F

c.431C>T

1 paper

NM_000152.5

p.E145K

c.433G>A

10 papers

NM_000152.5

p.M146delFs

c.437delT

1 paper

NM_000152.5

p.M146fs

c.436_437fs

1 paper

NM_000152.5

p.S143P

c.427T>C

1 paper

NM_000152.5

p.G147S

c.439G>A

4 papers

NM_000152.5

p.S142fs

c.424_425fs

1 paper

NM_000152.5

p.G147G

c.441C>G

9 papers

NM_000152.5

p.S142_G147delFs

c.424_440del17

4 papers

NM_000152.5

p.L141M

c.421C>A

1 paper

NM_000152.5

p.L141insFs

c.421_422insG

1 paper

NM_000152.5

p.L141V

c.421C>G