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.E539G

c.1616A>G

Surrounding Variants

2 papers

NM_000152.5

p.E539K

c.1615G>A

1 paper

NM_000152.5

p.N540_P541insA

c.1618_1622ins3

2 papers

NM_000152.5

p.P541_P545del5

c.1621_1634del15

1 paper

NM_000152.5

p.N536_E539delins

c.1608_1616delinsTGTTTT

1 paper

NM_000152.5

p.P541L

c.1622C>T

1 paper

NM_000152.5

p.P542_Y543del0

c.1624_1629del6

1 paper

NM_000152.5

p.P541_Y543delins

c.1623_1629delinsG

3 papers

NM_000152.5

p.E537delFs

c.1610delA

1 paper

NM_000152.5

p.N536S

c.1607A>G

1 paper

NM_000152.5

p.N536D

c.1606A>G

4 papers

NM_000152.5

p.P542P

c.1626C>G

2 papers

NM_000152.5

p.Y543D

c.1627T>G