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

1 paper

NM_000152.5

p.D83G

c.248A>G

Surrounding Variants

2 papers

NM_000152.5

p.C82W

c.246C>G

1 paper

NM_000152.5

p.V84I

c.250G>A

1 paper

NM_000152.5

p.C82S

c.245G>C

30 papers

NM_000152.5

p.P86insFs

c.258dupC

1 paper

NM_000152.5

p.Q81H

c.243G>T

1 paper

NM_000152.5

p.Q81R

c.242A>G

7 papers

NM_000152.5

p.Q81*

c.241C>T

1 paper

NM_000152.5

p.Q81Fs

c.241_243delinsAFs

1 paper

NM_000152.5

p.Q81fs

c.241_242fs

1 paper

NM_000152.5

p.P86S

c.256C>T

3 papers

NM_000152.5

p.P86P

c.258C>A

3 papers

NM_000152.5

p.N87fs

c.259_260fs