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.G73_A77del5

c.217_230del15

Surrounding Variants

1 paper

NM_000152.5

p.P72_G73insFs

c.216_217insA

1 paper

NM_000152.5

p.G73insFs

c.218dupG

1 paper

NM_000152.5

p.P72R

c.215C>G

1 paper

NM_000152.5

p.G73R

c.217G>C

1 paper

NM_000152.5

p.G73C

c.217G>T

1 paper

NM_000152.5

p.H71Q

c.213C>A

1 paper

NM_000152.5

p.H71P

c.212A>C

1 paper

NM_000152.5

p.R74C

c.220C>T

1 paper

NM_000152.5

p.H71Y

c.211C>T

2 papers

NM_000152.5

p.R74H

c.221G>A

1 paper

NM_000152.5

p.R74R

c.222T>C

1 paper

NM_000152.5

p.P75T

c.223C>A