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.G648_L650delFs

c.1944_1950del7

Surrounding Variants

44 papers

NM_000152.5

p.G648S

c.1942G>A

1 paper

NM_000152.5

p.G648R

c.1942G>C

40 papers

NM_000152.5

p.C647W

c.1941C>G

1 paper

NM_000152.5

p.G648delFs

c.1943delG

9 papers

NM_000152.5

p.G648D

c.1943G>A

1 paper

NM_000152.5

p.G648G

c.1944C>T

1 paper

NM_000152.5

p.F649fs

c.1945_1946fs

168 papers

NM_000152.5

p.D645E

c.1935C>A

137 papers

NM_000152.5

p.D645E

c.1935C>G

1 paper

NM_000152.5

p.D645D

c.1935C>T

1 paper

NM_000152.5

p.G651insFs

c.1952dupG

3 papers

NM_000152.5

p.G651delFs

c.1951delG