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

168 papers

NM_000152.5

p.D645E

c.1935C>A

Surrounding Variants

137 papers

NM_000152.5

p.D645E

c.1935C>G

1 paper

NM_000152.5

p.D645D

c.1935C>T

1 paper

NM_000152.5

p.D645_C647del0

c.1935_1940del6

77 papers

NM_000152.5

p.D645N

c.1933G>A

14 papers

NM_000152.5

p.D645H

c.1933G>C

20 papers

NM_000152.5

p.D645Y

c.1933G>T

1 paper

NM_000152.5

p.A644V

c.1931C>T

3 papers

NM_000152.5

p.A644P

c.1930G>C

2 papers

NM_000152.5

p.A644S

c.1930G>T

40 papers

NM_000152.5

p.C647W

c.1941C>G

1 paper

NM_000152.5

p.G648delFs

c.1943delG

1 paper

NM_000152.5

p.G643G

c.1929G>A