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.A495T

c.1483G>A

Surrounding Variants

1 paper

NM_000152.5

p.A495P

c.1483G>C

1 paper

NM_000152.5

p.A495fs

c.1483_1484fs

1 paper

NM_000152.5

p.T494insFs

c.1481dupC

17 papers

NM_000152.5

p.P493L

c.1478C>T

1 paper

NM_000152.5

p.A497_W498insFs

c.1489_1492dup4

5 papers

NM_000152.5

p.P493S

c.1477C>T

1 paper

NM_000152.5

p.P493fs

c.1477_1478fs

1 paper

NM_000152.5

p.N492_P493insFs

c.1476_1477ins17

6 papers

NM_000152.5

p.W498*

c.1493G>A

2 papers

NM_000152.5

p.W498S

c.1493G>C

1 paper

NM_000152.5

p.W498L

c.1493G>T

1 paper

NM_000152.5

p.T491I

c.1472C>T