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

4 papers

NM_000152.5

p.R106C

c.316C>T

Surrounding Variants

5 papers

NM_000152.5

p.R106H

c.317G>A

2 papers

NM_000152.5

p.R106_G107ins1

c.318_319insCCC

1 paper

NM_000152.5

p.R106R

c.318C>A

1 paper

NM_000152.5

p.A105S

c.313G>T

1 paper

NM_000152.5

p.E104_A105insFs

c.312_313insG

2 papers

NM_000152.5

p.C108S

c.322T>A

2 papers

NM_000152.5

p.C108G

c.322T>G

5 papers

NM_000152.5

p.C103*

c.309C>A

2 papers

NM_000152.5

p.C103W

c.309C>G

7 papers

NM_000152.5

p.C108Y

c.323G>A

4 papers

NM_000152.5

p.C108S

c.323G>C

1 paper

NM_000152.5

p.C108delins

c.323_324delinsAC