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

2 papers

NM_000152.5

p.R608delFs

c.1822delC

Surrounding Variants

6 papers

NM_000152.5

p.G607D

c.1820G>A

1 paper

NM_000152.5

p.G607G

c.1821C>A

2 papers

NM_000152.5

p.R608_A610insFs

c.1824_1828dup5

37 papers

NM_000152.5

p.R608*

c.1822C>T

1 paper

NM_000152.5

p.R608fs

c.1822_1823fs

1 paper

NM_000152.5

p.R608Q

c.1823G>A

1 paper

NM_000152.5

p.R608L

c.1823G>T

3 papers

NM_000152.5

p.Y609D

c.1825T>G

21 papers

NM_000152.5

p.Y609insFs

c.1826dupA

1 paper

NM_000152.5

p.Y609fs

c.1825_1826fs

17 papers

NM_000152.5

p.Y609delFs

c.1827delC

4 papers

NM_000152.5

p.G605D

c.1814G>A