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.N673delFs

c.2018delA

Surrounding Variants

1 paper

NM_000152.5

p.N673fs

c.2017_2018fs

39 papers

NM_000152.5

p.R672Q

c.2015G>A

3 papers

NM_000152.5

p.R672L

c.2015G>T

1 paper

NM_000152.5

p.R672G

c.2014C>G

37 papers

NM_000152.5

p.R672W

c.2014C>T

1 paper

NM_000152.5

p.R672delFs

c.2016delG

1 paper

NM_000152.5

p.N673K

c.2019C>A

2 papers

NM_000152.5

p.N673K

c.2019C>G

2 papers

NM_000152.5

p.M671I

c.2013G>A

2 papers

NM_000152.5

p.M671I

c.2013G>C

2 papers

NM_000152.5

p.M671I

c.2013G>T

5 papers

NM_000152.5

p.H674D

c.2020C>G