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

3 papers

NM_000152.5

p.L632R

c.1895T>G

Surrounding Variants

2 papers

NM_000152.5

p.L632P

c.1895T>C

1 paper

NM_000152.5

p.Q633Q

c.1899G>A

1 paper

NM_000152.5

p.Q633H

c.1899G>C

1 paper

NM_000152.5

p.E630G

c.1889A>G

7 papers

NM_000152.5

p.E630Splc

c.1889-1G>A

6 papers

NM_000152.5

p.N635D

c.1903A>G

1 paper

NM_000152.5

p.E630Splc

c.1889-2A>G

1 paper

NM_000152.5

p.E630Splc

c.1889-2A>T

1 paper

NM_000152.5

p.E630_G643delFs

c.1889_1928del40

7 papers

NM_000152.5

p.N635K

c.1905C>A

6 papers

NM_000152.5

p.N635K

c.1905C>G

2 papers

NM_000152.5

p.L637_P640del0

c.1910_1918del9