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.Q386_V387del1

c.1158_1160delGGT

Surrounding Variants

5 papers

NM_000152.5

p.Q386insFs

c.1157dupA

1 paper

NM_000152.5

p.Q386E

c.1156C>G

4 papers

NM_000152.5

p.Q386*

c.1156C>T

2 papers

NM_000152.5

p.R385H

c.1154G>A

2 papers

NM_000152.5

p.R385fs

c.1153_1154fs

2 papers

NM_000152.5

p.V388M

c.1162G>A

2 papers

NM_000152.5

p.E389delFs

c.1165delG

4 papers

NM_000152.5

p.R385delFs

c.1153delC

1 paper

NM_000152.5

p.I383M

c.1149C>G

1 paper

NM_000152.5

p.N390insFs

c.1168_1169insC

2 papers

NM_000152.5

p.N390fs

c.1168_1169fs

2 papers

NM_000152.5

p.N390delFs

c.1170delC