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.G344_P347delFs

c.1030_1039del10

Surrounding Variants

2 papers

NM_000152.5

p.G344S

c.1030G>A

1 paper

NM_000152.5

p.G344fs

c.1030_1031fs

1 paper

NM_000152.5

p.G344fs

c.1030_1031fs

1 paper

NM_000152.5

p.L343M

c.1027C>A

1 paper

NM_000152.5

p.F342insFs

c.1026dupC

1 paper

NM_000152.5

p.I341I

c.1023C>A

1 paper

NM_000152.5

p.Y340C

c.1019A>G

8 papers

NM_000152.5

p.P347R

c.1040C>G

5 papers

NM_000152.5

p.Y340_I341insT

c.1018_1022ins3

1 paper

NM_000152.5

p.D338V

c.1013A>T

1 paper

NM_000152.5

p.S349fs

c.1045_1046fs

5 papers

NM_000152.5

p.S349delFs

c.1047delC