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.N882delFs

c.2646delT

Surrounding Variants

2 papers

NM_000152.5

p.N882fs

c.2644_2645fs

1 paper

NM_000152.5

p.N882fs

c.2644_2645fs

1 paper

NM_000152.5

p.N882delFs

c.2645delA

8 papers

NM_000152.5

p.N882del1

c.2644_2645delAAT

1 paper

NM_000152.5

p.R881Fs

c.2642_2643delinsCFs

13 papers

NM_000152.5

p.N882_N883Splc

c.2646+2T>A

1 paper

NM_000152.5

p.N882_N883Splc

c.2646+2T>G

1 paper

NM_000152.5

p.R881fs

c.2641_2642fs

3 papers

NM_000152.5

p.A880D

c.2639C>A

1 paper

NM_000152.5

p.A880T

c.2638G>A

2 papers

NM_000152.5

p.L879P

c.2636T>C

1 paper

NM_000152.5

p.Q875*

c.2623C>T