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

2 papers

NM_000152.5

p.C374F

c.1121G>T

Surrounding Variants

5 papers

NM_000152.5

p.C374Y

c.1121G>A

3 papers

NM_000152.5

p.C374R

c.1120T>C

3 papers

NM_000152.5

p.R375C

c.1123C>T

10 papers

NM_000152.5

p.R375H

c.1124G>A

24 papers

NM_000152.5

p.R375L

c.1124G>T

1 paper

NM_000152.5

p.R375_W376delFs

c.1125_1126delCT

5 papers

NM_000152.5

p.L373R

c.1118T>G

1 paper

NM_000152.5

p.G377insFs

c.1129dupG

2 papers

NM_000152.5

p.G377delFs

c.1130delG

1 paper

NM_000152.5

p.W376fs

c.1126_1127fs

2 papers

NM_000152.5

p.W376_G377delFs

c.1127_1130del4

20 papers

NM_000152.5

p.H372L

c.1115A>T