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

13 papers

NM_000152.5

p.G359R

c.1075G>A

Surrounding Variants

9 papers

NM_000152.5

p.G359R

c.1075G>C

5 papers

NM_000152.5

p.G359*

c.1075G>T

1 paper

NM_000152.5

p.G359Splc

c.1075+1G>A

2 papers

NM_000152.5

p.G359Splc

c.1075+1G>T

2 papers

NM_000152.5

p.G359Splc

c.1075+2T>C

1 paper

NM_000152.5

p.G359Splc

c.1075+3A>G

2 papers

NM_000152.5

p.V358fs

c.1072_1073fs

1 paper

NM_000152.5

p.V358_G359delFs

c.1072_1075del4

2 papers

NM_000152.5

p.D356E

c.1068C>A

2 papers

NM_000152.5

p.D356E

c.1068C>G

1 paper

NM_000152.5

p.D356A

c.1067A>C

1 paper

NM_000152.5

p.D356V

c.1067A>T