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.N882_N883Splc

c.2647-1G>C

Surrounding Variants

12 papers

NM_000152.5

p.N882_N883Splc

c.2647-7G>A

6 papers

NM_000152.5

p.I885_V886delFs

c.2655_2656delCG

1 paper

NM_000152.5

p.V886delFs

c.2657_2658delTG

5 papers

NM_000152.5

p.V886fs

c.2656_2657fs

53 papers

NM_000152.5

p.E888*

c.2662G>T

1 paper

NM_000152.5

p.N882_N883Splc

c.2647-20T>G

3 papers

NM_000152.5

p.V890L

c.2668G>C

1 paper

NM_000152.5

p.V890L

c.2668G>T

1 paper

NM_000152.5

p.R891C

c.2671C>T

1 paper

NM_000152.5

p.L899Q

c.2696T>A

1 paper

NM_000152.5

p.Q900H

c.2700G>T

4 papers

NM_000152.5

p.L901Q

c.2702T>A