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.F490delFs

c.1469delT

Surrounding Variants

7 papers

NM_000152.5

p.D489G

c.1466A>G

5 papers

NM_000152.5

p.F490L

c.1468T>C

37 papers

NM_000152.5

p.D489N

c.1465G>A

8 papers

NM_000152.5

p.D489Y

c.1465G>T

3 papers

NM_000152.5

p.D489fs

c.1465_1466fs

6 papers

NM_000152.5

p.F490L

c.1470C>A

4 papers

NM_000152.5

p.F490L

c.1470C>G

1 paper

NM_000152.5

p.T491I

c.1472C>T

1 paper

NM_000152.5

p.D489_A495del7

c.1465_1484del21

1 paper

NM_000152.5

p.F487L

c.1461C>A

1 paper

NM_000152.5

p.F487L

c.1461C>G

9 papers

NM_000152.5

p.F487S

c.1460T>C