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

20 papers

NM_000152.5

p.H372L

c.1115A>T

Surrounding Variants

2 papers

NM_000152.5

p.H372D

c.1114C>G

6 papers

NM_000152.5

p.H372Y

c.1114C>T

1 paper

NM_000152.5

p.F371Y

c.1112T>A

5 papers

NM_000152.5

p.L373R

c.1118T>G

3 papers

NM_000152.5

p.C374R

c.1120T>C

5 papers

NM_000152.5

p.G370D

c.1109G>A

5 papers

NM_000152.5

p.C374Y

c.1121G>A

2 papers

NM_000152.5

p.C374F

c.1121G>T

3 papers

NM_000152.5

p.R375C

c.1123C>T

1 paper

NM_000152.5

p.L369L

c.1107G>C

10 papers

NM_000152.5

p.R375H

c.1124G>A

24 papers

NM_000152.5

p.R375L

c.1124G>T