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.Q69K

c.205C>A

Surrounding Variants

2 papers

NM_000152.5

p.Q69*

c.205C>T

1 paper

NM_000152.5

p.Q69R

c.206A>G

1 paper

NM_000152.5

p.Q69Q

c.207G>A

1 paper

NM_000152.5

p.A68T

c.202G>A

1 paper

NM_000152.5

p.A70V

c.209C>T

1 paper

NM_000152.5

p.D67D

c.201T>C

1 paper

NM_000152.5

p.H71Y

c.211C>T

3 papers

NM_000152.5

p.D67N

c.199G>A

1 paper

NM_000152.5

p.H71P

c.212A>C

1 paper

NM_000152.5

p.H71Q

c.213C>A

1 paper

NM_000152.5

p.R66fs

c.196_197fs

1 paper

NM_000152.5

p.P72R

c.215C>G