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

9 papers

NM_000152.5

p.G532S

c.1594G>A

Surrounding Variants

1 paper

NM_000152.5

p.D531fs

c.1591_1592fs

2 papers

NM_000152.5

p.C533R

c.1597T>C

3 papers

NM_000152.5

p.C533G

c.1597T>G

1 paper

NM_000152.5

p.C533Y

c.1598G>A

2 papers

NM_000152.5

p.D531insFs

c.1591dupG

2 papers

NM_000152.5

p.E530delFs

c.1589delA

1 paper

NM_000152.5

p.E530fs

c.1588_1589fs

2 papers

NM_000152.5

p.P534_N535Fs

c.1602_1605delinsAGGFs

1 paper

NM_000152.5

p.N535D

c.1603A>G

1 paper

NM_000152.5

p.N535fs

c.1603_1604fs

1 paper

NM_000152.5

p.S529Fs

c.1585_1586delinsGFs

2 papers

NM_000152.5

p.S529delins

c.1585_1586delinsGT