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.A60insFs

c.179_180insCA

Surrounding Variants

1 paper

NM_000152.5

p.A60T

c.178G>A

1 paper

NM_000152.5

p.R62K

c.185G>A

1 paper

NM_000152.5

p.R62insFs

c.186dupA

1 paper

NM_000152.5

p.R62_R66insFs

c.186_196dup11

1 paper

NM_000152.5

p.R62R

c.186A>G

8 papers

NM_000152.5

p.Q58*

c.172C>T

1 paper

NM_000152.5

p.Q58delFs

c.173delA

1 paper

NM_000152.5

p.P63insFs

c.188_189insA

1 paper

NM_000152.5

p.G64_H71del8

c.190_212del24

2 papers

NM_000152.5

p.Q57E

c.169C>G

6 papers

NM_000152.5

p.Q57*

c.169C>T

1 paper

NM_000152.5

p.G64delins

c.190_191delinsAT