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

5 papers

NM_000152.5

p.R527delFs

c.1579_1580delAG

Surrounding Variants

5 papers

NM_000152.5

p.R527delFs

c.1579delA

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

4 papers

NM_000152.5

p.R527fs

c.1579_1580fs

2 papers

NM_000152.5

p.I526T

c.1577T>C

4 papers

NM_000152.5

p.R527R

c.1581G>A

2 papers

NM_000152.5

p.G528fs

c.1582_1583fs

7 papers

NM_000152.5

p.F525Y

c.1574T>A

1 paper

NM_000152.5

p.G528D

c.1583G>A

4 papers

NM_000152.5

p.G528A

c.1583G>C

3 papers

NM_000152.5

p.N524K

c.1572C>A