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.Y133D

c.397T>G

Surrounding Variants

1 paper

NM_000152.5

p.Y133*

c.399C>A

1 paper

NM_000152.5

p.S132fs

c.394_395fs

1 paper

NM_000152.5

p.P131delFs

c.393delC

1 paper

NM_000152.5

p.Y136N

c.406T>A

2 papers

NM_000152.5

p.F128S

c.383T>C

1 paper

NM_000152.5

p.F128C

c.383T>G

2 papers

NM_000152.5

p.L138M

c.412C>A

1 paper

NM_000152.5

p.L138L

c.412C>T

3 papers

NM_000152.5

p.C127Y

c.380G>A

5 papers

NM_000152.5

p.C127F

c.380G>T

1 paper

NM_000152.5

p.F129del1

c.385_386delTTC

1 paper

NM_000152.5

p.E139Q

c.415G>C