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

6 papers

NM_000152.5

p.Q563*

c.1687C>T

Surrounding Variants

6 papers

NM_000152.5

p.Q563L

c.1688A>T

1 paper

NM_000152.5

p.F564delFs

c.1692delT

9 papers

NM_000152.5

p.L565_S566delFs

c.1694_1697del4

1 paper

NM_000152.5

p.Q563insFs

c.1687_1688ins4

1 paper

NM_000152.5

p.L565F

c.1693C>T

2 papers

NM_000152.5

p.S561_T567insFs

c.1681_1699dup19

9 papers

NM_000152.5

p.S566P

c.1696T>C

1 paper

NM_000152.5

p.A559A

c.1677C>A

1 paper

NM_000152.5

p.T567fs

c.1699_1700fs

1 paper

NM_000152.5

p.T567I

c.1700C>T

1 paper

NM_000152.5

p.C558Y

c.1673G>A

5 papers

NM_000152.5

p.C558S

c.1673G>C