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.P930delFs

c.2790delC

Surrounding Variants

2 papers

NM_000152.5

p.P930_T932del3

c.2788_2795del9

6 papers

NM_000152.5

p.Y928C

c.2783A>G

1 paper

NM_000152.5

p.D931fs

c.2791_2792fs

8 papers

NM_000152.5

p.T927I

c.2780C>T

1 paper

NM_000152.5

p.T932_K933insG

c.2794_2798ins3

1 paper

NM_000152.5

p.K933E

c.2797A>G

2 papers

NM_000152.5

p.N925H

c.2773A>C

3 papers

NM_000152.5

p.K933K

c.2799G>A

1 paper

NM_000152.5

p.K933_V934Splc

c.2799+1G>A

4 papers

NM_000152.5

p.S924P

c.2770T>C

5 papers

NM_000152.5

p.K933_V934Splc

c.2799+4A>G

2 papers

NM_000152.5

p.K933_V934Splc

c.2799+5G>A