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.E51fs

c.151_152fs

Surrounding Variants

1 paper

NM_000152.5

p.E51insFs

c.152_153ins22

2 papers

NM_000152.5

p.E50V

c.149A>T

2 papers

NM_000152.5

p.T52_H53delFs

c.156_157delTC

3 papers

NM_000152.5

p.E50fs

c.148_149fs

1 paper

NM_000152.5

p.E50fs

c.148_149fs

1 paper

NM_000152.5

p.L49P

c.146T>C

1 paper

NM_000152.5

p.H53fs

c.157_158fs

1 paper

NM_000152.5

p.H53Y

c.157C>T

1 paper

NM_000152.5

p.H53insFs

c.158_159insC

1 paper

NM_000152.5

p.P54A

c.160C>G

1 paper

NM_000152.5

p.P47S

c.139C>T

3 papers

NM_000152.5

p.S46P

c.136T>C