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

40 papers

NM_000152.5

p.R870*

c.2608C>T

Surrounding Variants

1 paper

NM_000152.5

p.E869K

c.2605G>A

1 paper

NM_000152.5

p.L868P

c.2603T>C

3 papers

NM_000152.5

p.L868delFs

c.2604delG

1 paper

NM_000152.5

p.L868fs

c.2602_2603fs

1 paper

NM_000152.5

p.Y873insFs

c.2617dupT

1 paper

NM_000152.5

p.V867A

c.2600T>C

7 papers

NM_000152.5

p.V867_L868Fs

c.2600_2604delinsAFs

1 paper

NM_000152.5

p.V867fs

c.2599_2600fs

1 paper

NM_000152.5

p.Y873fs

c.2617_2618fs

1 paper

NM_000152.5

p.Y873*

c.2619C>A

3 papers

NM_000152.5

p.Y873*

c.2619C>G

3 papers

NM_000152.5

p.E866delFs

c.2596delG