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.R89L

c.266G>T

Surrounding Variants

14 papers

NM_000152.5

p.R89H

c.266G>A

1 paper

NM_000152.5

p.R89insFs

c.266_267insT

4 papers

NM_000152.5

p.R89C

c.265C>T

5 papers

NM_000152.5

p.D91delFs

c.271delG

46 papers

NM_000152.5

p.D91N

c.271G>A

1 paper

NM_000152.5

p.D91fs

c.271_272fs

1 paper

NM_000152.5

p.D91G

c.272A>G

1 paper

NM_000152.5

p.S88_R89del2

c.262_266del6

3 papers

NM_000152.5

p.N87fs

c.259_260fs

7 papers

NM_000152.5

p.N87fs

c.259_260fs

3 papers

NM_000152.5

p.P86P

c.258C>A

1 paper

NM_000152.5

p.C92Y

c.275G>A