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

123 papers

NM_000152.5

p.G576S

c.1726G>A

Surrounding Variants

6 papers

NM_000152.5

p.G576R

c.1726G>C

1 paper

NM_000152.5

p.G576C

c.1726G>T

3 papers

NM_000152.5

p.Y575*

c.1725C>A

3 papers

NM_000152.5

p.Y575*

c.1725C>G

1 paper

NM_000152.5

p.G576delFs

c.1727delG

5 papers

NM_000152.5

p.G576D

c.1727G>A

1 paper

NM_000152.5

p.G576A

c.1727G>C

7 papers

NM_000152.5

p.Y575S

c.1724A>C

3 papers

NM_000152.5

p.Y575C

c.1724A>G

1 paper

NM_000152.5

p.Y575H

c.1723T>C

7 papers

NM_000152.5

p.L574P

c.1721T>C

1 paper

NM_000152.5

p.Y575_G576del2

c.1723_1727del6