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

3 papers

NM_000152.5

p.N524K

c.1572C>A

Surrounding Variants

1 paper

NM_000152.5

p.N524K

c.1572C>G

1 paper

NM_000152.5

p.N524S

c.1571A>G

4 papers

NM_000152.5

p.F525_I526del2

c.1573_1577del6

7 papers

NM_000152.5

p.F525Y

c.1574T>A

4 papers

NM_000152.5

p.S523Y

c.1568C>A

2 papers

NM_000152.5

p.I526T

c.1577T>C

2 papers

NM_000152.5

p.S523A

c.1567T>G

5 papers

NM_000152.5

p.R527delFs

c.1579delA

5 papers

NM_000152.5

p.R527delFs

c.1579_1580delAG

1 paper

NM_000152.5

p.R527fs

c.1579_1580fs

1 paper

NM_000152.5

p.R527delFs

c.1581delG

1 paper

NM_000152.5

p.G528delFs

c.1582_1583delGG