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.D163E

c.489C>A

Surrounding Variants

1 paper

NM_000152.5

p.D163E

c.489C>G

1 paper

NM_000152.5

p.D163_L165delFs

c.489_495del7

1 paper

NM_000152.5

p.D163N

c.487G>A

1 paper

NM_000152.5

p.I164M

c.492C>G

2 papers

NM_000152.5

p.K162Q

c.484A>C

3 papers

NM_000152.5

p.K162fs

c.484_485fs

1 paper

NM_000152.5

p.T166I

c.497C>T

1 paper

NM_000152.5

p.P161fs

c.481_482fs

1 paper

NM_000152.5

p.L167M

c.499C>A

5 papers

NM_000152.5

p.P161insFs

c.483dupC

10 papers

NM_000152.5

p.P161delFs

c.482_483delCC

3 papers

NM_000152.5

p.R168W

c.502C>T