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

44 papers

NM_000152.5

p.P361L

c.1082C>T

Surrounding Variants

4 papers

NM_000152.5

p.P361Q

c.1082C>A

6 papers

NM_000152.5

p.P361R

c.1082C>G

2 papers

NM_000152.5

p.Y360*

c.1080C>A

3 papers

NM_000152.5

p.Y360*

c.1080C>G

2 papers

NM_000152.5

p.G359Splc

c.1076-1G>A

22 papers

NM_000152.5

p.G359Splc

c.1076-1G>C

1 paper

NM_000152.5

p.G359_Y360del1

c.1076_1078delGAT

1 paper

NM_000152.5

p.G359Splc

c.1076-2A>G

1 paper

NM_000152.5

p.P364S

c.1090C>T

1 paper

NM_000152.5

p.P364L

c.1091C>T

1 paper

NM_000152.5

p.P365A

c.1093C>G

15 papers

NM_000152.5

p.W367R

c.1099T>A