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

9 papers

NM_000152.5

p.A844_L847del0

c.2530_2541del12

Surrounding Variants

1 paper

NM_000152.5

p.Q839_P840insCC

c.2515_2519ins6

2 papers

NM_000152.5

p.Q839*

c.2515C>T

5 papers

NM_000152.5

p.L843P

c.2528T>C

6 papers

NM_000152.5

p.Q838*

c.2512C>T

4 papers

NM_000152.5

p.R837H

c.2510G>A

4 papers

NM_000152.5

p.R837C

c.2509C>T

2 papers

NM_000152.5

p.A846D

c.2537C>A

2 papers

NM_000152.5

p.L847P

c.2540T>C

2 papers

NM_000152.5

p.T834_E835insFs

c.2502_2503insA

1 paper

NM_000152.5

p.T834R

c.2501C>G

2 papers

NM_000152.5

p.T834fs

c.2500_2501fs

4 papers

NM_000152.5

p.T848delFs

c.2544delC