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

57 papers

NM_000152.5

p.E262K

c.784G>A

Surrounding Variants

3 papers

NM_000152.5

p.E262Q

c.784G>C

1 paper

NM_000152.5

p.E262D

c.786G>C

1 paper

NM_000152.5

p.E262D

c.786G>T

6 papers

NM_000152.5

p.A261T

c.781G>A

1 paper

NM_000152.5

p.A261P

c.781G>C

1 paper

NM_000152.5

p.G259D

c.776G>A

3 papers

NM_000152.5

p.G259V

c.776G>T

1 paper

NM_000152.5

p.S265R

c.793A>C

5 papers

NM_000152.5

p.S265delFs

c.794delG

1 paper

NM_000152.5

p.T258T

c.774A>T

1 paper

NM_000152.5

p.S265N

c.794G>A

1 paper

NM_000152.5

p.S265R

c.795T>A