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

157 papers

NM_000152.5

p.R854*

c.2560C>T

Surrounding Variants

3 papers

NM_000152.5

p.R854Q

c.2561G>A

2 papers

NM_000152.5

p.E856insFs

c.2566dupG

1 paper

NM_000152.5

p.A853D

c.2558C>A

3 papers

NM_000152.5

p.G855R

c.2563G>A

4 papers

NM_000152.5

p.G855R

c.2563G>C

1 paper

NM_000152.5

p.E856fs

c.2566_2567fs

8 papers

NM_000152.5

p.G851G

c.2553G>A

1 paper

NM_000152.5

p.L857R

c.2570T>G

1 paper

NM_000152.5

p.K849delFs

c.2547delG

2 papers

NM_000152.5

p.K849fs

c.2545_2546fs

1 paper

NM_000152.5

p.D860delFs

c.2578delG

3 papers

NM_000152.5

p.W859*

c.2576G>A