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

3 papers

NM_000152.5

p.M515T

c.1544T>C

Surrounding Variants

6 papers

NM_000152.5

p.M515K

c.1544T>A

1 paper

NM_000152.5

p.W516R

c.1546T>A

1 paper

NM_000152.5

p.W516R

c.1546T>C

15 papers

NM_000152.5

p.W516*

c.1547G>A

50 papers

NM_000152.5

p.W516*

c.1548G>A

3 papers

NM_000152.5

p.G514R

c.1540G>C

3 papers

NM_000152.5

p.I517del1

c.1549_1550delATT

1 paper

NM_000152.5

p.D513E

c.1539C>A

1 paper

NM_000152.5

p.D513E

c.1539C>G

3 papers

NM_000152.5

p.D513G

c.1538A>G

3 papers

NM_000152.5

p.D513N

c.1537G>A

18 papers

NM_000152.5

p.I517_D518Splc

c.1551+1G>A