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

Selected Variant

1 paper

NM_198335.4

p.D669G

c.2006A>G

Surrounding Variants

1 paper

NM_198334.3

p.D647V

c.1940A>T

1 paper

NM_198334.3

p.R684*

c.2050C>T

1 paper

NM_198335.4

p.R726*

c.2176C>T

1 paper

NM_198335.4

p.A668Splc

c.2002+1G>C

1 paper

NM_198334.3

p.F710_W711del2

c.2128_2132del6

1 paper

NM_198334.3

p.E622delFs

c.1864delC

1 paper

NM_198335.4

p.D640fs

c.1918_1919fs

1 paper

NM_198335.4

p.T638_G639delFs

c.1914_1915delCT

1 paper

NM_198334.3

p.G612V

c.1835G>T

2 papers

NM_198334.3

p.G612A

c.1835G>C

1 paper

NM_198335.4

p.A628G

c.1883C>G

1 paper

NM_198335.4

p.V621_L622delFs

c.1863_1866del4