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.H507_M515delFs

c.1519_1543del25

Surrounding Variants

1 paper

NM_000152.5

p.H507L

c.1520A>T

1 paper

NM_000152.5

p.Q509*

c.1525C>T

2 papers

NM_000152.5

p.Q509L

c.1526A>T

2 papers

NM_000152.5

p.A504del1

c.1510_1511delGCT

2 papers

NM_000152.5

p.V503_A504del1

c.1509_1511delGGC

1 paper

NM_000152.5

p.V503fs

c.1507_1508fs

2 papers

NM_000152.5

p.P511T

c.1531C>A

2 papers

NM_000152.5

p.V503delFs

c.1507delG

5 papers

NM_000152.5

p.M502V

c.1504A>G

6 papers

NM_000152.5

p.P511H

c.1532C>A

1 paper

NM_000152.5

p.P511P

c.1533C>T

3 papers

NM_000152.5

p.D513N

c.1537G>A