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.S206A

c.616T>G

Surrounding Variants

1 paper

NM_000152.5

p.P205P

c.615G>A

2 papers

NM_000152.5

p.P207Q

c.620C>A

1 paper

NM_000152.5

p.L208delFs

c.622delC

1 paper

NM_000152.5

p.A204V

c.611C>T

2 papers

NM_000152.5

p.L208F

c.622C>T

6 papers

NM_000152.5

p.L208P

c.623T>C

1 paper

NM_000152.5

p.Y209insFs

c.625dupT

1 paper

NM_000152.5

p.R203R

c.607C>A

2 papers

NM_000152.5

p.Y209H

c.625T>C

1 paper

NM_000152.5

p.S202N

c.605G>A

1 paper

NM_000152.5

p.H201H

c.603C>T

1 paper

NM_000152.5

p.H201R

c.602A>G