Varaico: Literature-Extracted Genetic Variants

GANAB

115 papers

RefSeq Summary

This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality ...

Pfam Domains

Gal_mutarotas_2aa 1–227UCSCGlycosyl hydrolase 31 N-terminal galactose mutarotase-like domain

Gal_mutarotas_2aa 4–232UCSCGlycosyl hydrolase 31 N-terminal galactose mutarotase-like domain

Glyco_hydro_31_2ndaa 289–617UCSCGlycosyl hydrolases family 31 TIM-barrel domain

Glyco_hydro_31_3rdaa 625–713UCSCGlycosyl hydrolase family 31 C-terminal domain

Gene Aliases

HGNC Name

glucosidase II alpha subunit

HGNC Alias Symbols

GluII; G2AN; KIAA0088; GIIA; GIIalpha

Papers

RefSeq ID

Protein change

DNA change

1–12 of 168 variants

4 papers

NM_198334.3

p.N171S

c.512A>G

2 papers

NM_198335.4

p.R422L

c.1265G>T

2 papers

NM_198334.3

p.M594V

c.1780A>G

2 papers

NM_198334.3

p.G612A

c.1835G>C

2 papers

NM_198335.4

p.R839W

c.2515C>T

2 papers

NM_198334.3

p.P886S

c.2656C>T

1 paper

NM_198334.3

p.M1insFs

c.1dupA

1 paper

NM_198334.3

p.A6T

c.16G>A

1 paper

NM_198334.3

p.V4_A6del0

c.11_16del6

1 paper

NM_198334.3

p.V7G

c.20T>G

1 paper

NM_198334.3

p.A8A

c.24G>C

1 paper

NM_198334.3

p.R13Q

c.38G>A