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

14 papers

NM_000152.5

p.V548F

c.1642G>T

Surrounding Variants

6 papers

NM_000152.5

p.G550insFs

c.1650dupG

5 papers

NM_000152.5

p.G550delFs

c.1650delG

23 papers

NM_000152.5

p.G549R

c.1645G>A

24 papers

NM_000152.5

p.G549R

c.1645G>C

1 paper

NM_000152.5

p.V547fs

c.1639_1640fs

1 paper

NM_000152.5

p.G549V

c.1646G>T

3 papers

NM_000152.5

p.G546E

c.1637G>A

1 paper

NM_000152.5

p.G550W

c.1648G>T

6 papers

NM_000152.5

p.G546Splc

c.1637-2A>G

1 paper

NM_000152.5

p.G550_T551insFs

c.1650_1651dupGA

1 paper

NM_000152.5

p.T551fs

c.1651_1652fs

7 papers

NM_000152.5

p.L552delFs

c.1654delC