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

2 papers

NM_000152.5

p.P482delFs

c.1446delC

Surrounding Variants

2 papers

NM_000152.5

p.W481*

c.1443G>A

2 papers

NM_000152.5

p.P482S

c.1444C>T

2 papers

NM_000152.5

p.W481*

c.1442G>A

12 papers

NM_000152.5

p.P482R

c.1445C>G

11 papers

NM_000152.5

p.P482L

c.1445C>T

17 papers

NM_000152.5

p.W481R

c.1441T>A

27 papers

NM_000152.5

p.W481R

c.1441T>C

1 paper

NM_000152.5

p.W481_P482insFs

c.1443_1444insG

9 papers

NM_000152.5

p.P482_G483del2

c.1444_1448del6

1 paper

NM_000152.5

p.W481insFs

c.1441_1442insT

6 papers

NM_000152.5

p.W481delFs

c.1441delT

1 paper

NM_000152.5

p.P482P

c.1446C>T