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.S265R

c.793A>C

Surrounding Variants

5 papers

NM_000152.5

p.S265delFs

c.794delG

1 paper

NM_000152.5

p.S265N

c.794G>A

1 paper

NM_000152.5

p.S265R

c.795T>A

1 paper

NM_000152.5

p.S265R

c.795T>G

1 paper

NM_000152.5

p.P266insFs

c.797_798insC

6 papers

NM_000152.5

p.P266T

c.796C>A

33 papers

NM_000152.5

p.P266S

c.796C>T

1 paper

NM_000152.5

p.P266L

c.797C>T

1 paper

NM_000152.5

p.L267fs

c.799_800fs

2 papers

NM_000152.5

p.L267_M268Fs

c.799_803delinsAFs

1 paper

NM_000152.5

p.E262D

c.786G>C

1 paper

NM_000152.5

p.E262D

c.786G>T