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.I557V

c.1669A>G

Surrounding Variants

16 papers

NM_000152.5

p.I557F

c.1669A>T

3 papers

NM_000152.5

p.I557S

c.1670T>G

2 papers

NM_000152.5

p.C558_A559delFs

c.1674_1675delTG

3 papers

NM_000152.5

p.T556A

c.1666A>G

5 papers

NM_000152.5

p.C558S

c.1672T>A

1 paper

NM_000152.5

p.C558G

c.1672T>G

1 paper

NM_000152.5

p.C558Y

c.1673G>A

5 papers

NM_000152.5

p.C558S

c.1673G>C

1 paper

NM_000152.5

p.A555P

c.1663G>C

1 paper

NM_000152.5

p.A559A

c.1677C>A

2 papers

NM_000152.5

p.S561_T567insFs

c.1681_1699dup19

9 papers

NM_000152.5

p.Q553*

c.1657C>T