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

103 papers

NM_000152.5

p.E689K

c.2065G>A

Surrounding Variants

2 papers

NM_000152.5

p.E689fs

c.2065_2066fs

2 papers

NM_000152.5

p.E689_P690delFs

c.2066_2069del4

8 papers

NM_000152.5

p.E689_P690insFs

c.2066_2070dup5

1 paper

NM_000152.5

p.P690S

c.2068C>T

8 papers

NM_000152.5

p.P690insFs

c.2070dupG

4 papers

NM_000152.5

p.P690L

c.2069C>T

1 paper

NM_000152.5

p.F687F

c.2061C>T

1 paper

NM_000152.5

p.P690P

c.2070G>A

3 papers

NM_000152.5

p.A691insFs

c.2071_2072ins5

1 paper

NM_000152.5

p.A691fs

c.2071_2072fs

1 paper

NM_000152.5

p.A691fs

c.2071_2072fs

1 paper

NM_000152.5

p.A691insFs

c.2072_2073ins5