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.T722S

c.2164A>T

Surrounding Variants

1 paper

NM_000152.5

p.T722S

c.2165C>G

2 papers

NM_000152.5

p.T722_V723del2

c.2164_2168del6

8 papers

NM_000152.5

p.V723M

c.2167G>A

2 papers

NM_000152.5

p.E721Q

c.2161G>C

4 papers

NM_000152.5

p.E721*

c.2161G>T

1 paper

NM_000152.5

p.E721fs

c.2161_2162fs

4 papers

NM_000152.5

p.V723_L727delins

c.2167_2179delinsTGCGACGTGG

1 paper

NM_000152.5

p.R725delFs

c.2173delC

1 paper

NM_000152.5

p.A724fs

c.2170_2171fs

7 papers

NM_000152.5

p.A724D

c.2171C>A

1 paper

NM_000152.5

p.A719A

c.2157G>A

1 paper

NM_000152.5

p.A719E

c.2156C>A