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

41 papers

NM_000152.5

p.G615R

c.1843G>A

Surrounding Variants

36 papers

NM_000152.5

p.G615R

c.1843G>C

9 papers

NM_000152.5

p.G615E

c.1844G>A

1 paper

NM_000152.5

p.T614T

c.1842G>A

5 papers

NM_000152.5

p.G615V

c.1844G>T

18 papers

NM_000152.5

p.T614K

c.1841C>A

2 papers

NM_000152.5

p.T614M

c.1841C>T

1 paper

NM_000152.5

p.D616delFs

c.1846delG

4 papers

NM_000152.5

p.G615_D616del1

c.1844_1846delGGG

3 papers

NM_000152.5

p.G615G

c.1845G>A

1 paper

NM_000152.5

p.T614insFs

c.1840_1841insC

3 papers

NM_000152.5

p.T614A

c.1840A>G

7 papers

NM_000152.5

p.D616N

c.1846G>A