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.A486T

c.1456G>A

Surrounding Variants

10 papers

NM_000152.5

p.A486P

c.1456G>C

2 papers

NM_000152.5

p.A486S

c.1456G>T

1 paper

NM_000152.5

p.T485I

c.1454C>T

1 paper

NM_000152.5

p.F487L

c.1459T>C

1 paper

NM_000152.5

p.S484S

c.1452C>T

9 papers

NM_000152.5

p.F487S

c.1460T>C

3 papers

NM_000152.5

p.P488insFs

c.1464dupC

1 paper

NM_000152.5

p.F487L

c.1461C>A

1 paper

NM_000152.5

p.F487L

c.1461C>G

1 paper

NM_000152.5

p.D489_A495del7

c.1465_1484del21

1 paper

NM_000152.5

p.G483E

c.1448G>A

6 papers

NM_000152.5

p.G483V

c.1448G>T