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.N536D

c.1606A>G

Surrounding Variants

1 paper

NM_000152.5

p.N536S

c.1607A>G

1 paper

NM_000152.5

p.N535D

c.1603A>G

1 paper

NM_000152.5

p.N535fs

c.1603_1604fs

3 papers

NM_000152.5

p.E537delFs

c.1610delA

1 paper

NM_000152.5

p.N536_E539delins

c.1608_1616delinsTGTTTT

2 papers

NM_000152.5

p.P534_N535Fs

c.1602_1605delinsAGGFs

1 paper

NM_000152.5

p.C533Y

c.1598G>A

2 papers

NM_000152.5

p.E539K

c.1615G>A

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.E539G

c.1616A>G

1 paper

NM_000152.5

p.N540_P541insA

c.1618_1622ins3