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

4 papers

NM_000152.5

p.E730Splc

c.2189+1G>A

Surrounding Variants

1 paper

NM_000152.5

p.E730Splc

c.2189+1G>T

2 papers

NM_000152.5

p.E730Splc

c.2189+3G>C

7 papers

NM_000152.5

p.E730*

c.2188G>T

2 papers

NM_000152.5

p.L729R

c.2186T>G

3 papers

NM_000152.5

p.L729fs

c.2185_2186fs

9 papers

NM_000152.5

p.L729delFs

c.2185delC

2 papers

NM_000152.5

p.F728fs

c.2182_2183fs

3 papers

NM_000152.5

p.F728delFs

c.2182_2183delTT

1 paper

NM_000152.5

p.L727P

c.2180T>C

1 paper

NM_000152.5

p.P726P

c.2178C>T

4 papers

NM_000152.5

p.P726R

c.2177C>G

4 papers

NM_000152.5

p.R725Q

c.2174G>A