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.V503_A504del1

c.1509_1511delGGC

Surrounding Variants

2 papers

NM_000152.5

p.A504del1

c.1510_1511delGCT

1 paper

NM_000152.5

p.V503fs

c.1507_1508fs

2 papers

NM_000152.5

p.V503delFs

c.1507delG

5 papers

NM_000152.5

p.M502V

c.1504A>G

1 paper

NM_000152.5

p.H507_M515delFs

c.1519_1543del25

8 papers

NM_000152.5

p.W499*

c.1497G>A

2 papers

NM_000152.5

p.D501_E505del0

c.1501_1515del15

1 paper

NM_000152.5

p.H507L

c.1520A>T

7 papers

NM_000152.5

p.W499*

c.1496G>A

11 papers

NM_000152.5

p.W499R

c.1495T>A

11 papers

NM_000152.5

p.W499R

c.1495T>C

4 papers

NM_000152.5

p.W498*

c.1494G>A