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

55 papers

NM_000152.5

p.R600C

c.1798C>T

Surrounding Variants

1 paper

NM_000152.5

p.R600G

c.1798C>G

1 paper

NM_000152.5

p.R600delins

c.1798delinsTACA

1 paper

NM_000152.5

p.R600fs

c.1798_1799fs

41 papers

NM_000152.5

p.R600H

c.1799G>A

5 papers

NM_000152.5

p.R600P

c.1799G>C

8 papers

NM_000152.5

p.R600L

c.1799G>T

9 papers

NM_000152.5

p.S599Y

c.1796C>A

3 papers

NM_000152.5

p.S599F

c.1796C>T

1 paper

NM_000152.5

p.R600insFs

c.1798dupC

5 papers

NM_000152.5

p.S601*

c.1802C>A

14 papers

NM_000152.5

p.S601W

c.1802C>G

29 papers

NM_000152.5

p.S601L

c.1802C>T