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

4 papers

NM_000152.5

p.Y378*

c.1134C>A

Surrounding Variants

6 papers

NM_000152.5

p.Y378*

c.1134C>G

6 papers

NM_000152.5

p.S379_S380del2

c.1135_1139del6

3 papers

NM_000152.5

p.S379Y

c.1136C>A

1 paper

NM_000152.5

p.S379F

c.1136C>T

1 paper

NM_000152.5

p.Y378N

c.1132T>A

1 paper

NM_000152.5

p.Y378_S379delins

c.1132_1136delinsGGCTA

5 papers

NM_000152.5

p.Y378_S379del2

c.1132_1136del6

1 paper

NM_000152.5

p.S380F

c.1139C>T

6 papers

NM_000152.5

p.G377S

c.1129G>A

14 papers

NM_000152.5

p.G377R

c.1129G>C

1 paper

NM_000152.5

p.G377insFs

c.1129_1130insC

1 paper

NM_000152.5

p.G377fs

c.1129_1130fs