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.M519I

c.1557G>T

Surrounding Variants

5 papers

NM_000152.5

p.M519I

c.1557G>A

1 paper

NM_000152.5

p.M519I

c.1557G>C

1 paper

NM_000152.5

p.N520D

c.1558A>G

10 papers

NM_000152.5

p.M519T

c.1556T>C

21 papers

NM_000152.5

p.M519V

c.1555A>G

4 papers

NM_000152.5

p.N520S

c.1559A>G

1 paper

NM_000152.5

p.N520I

c.1559A>T

3 papers

NM_000152.5

p.N520K

c.1560C>A

1 paper

NM_000152.5

p.D518E

c.1554C>A

5 papers

NM_000152.5

p.N520K

c.1560C>G

1 paper

NM_000152.5

p.D518E

c.1554C>G

31 papers

NM_000152.5

p.E521K

c.1561G>A