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_198334.3

p.R51fs

c.151_152fs

Surrounding Variants

1 paper

NM_198334.3

p.R51delFs

c.152_153delTC

1 paper

NM_198334.3

p.R51fs

c.151_152fs

1 paper

NM_198334.3

p.R54W

c.160C>T

1 paper

NM_198334.3

p.R49*

c.145C>T

1 paper

NM_198334.3

p.G56V

c.167G>T

1 paper

NM_198334.3

p.R61*

c.181C>T

1 paper

NM_198334.3

p.L63S

c.188T>C

1 paper

NM_198334.3

p.Q68R

c.203A>G

1 paper

NM_198334.3

p.L69V

c.205C>G

1 paper

NM_198334.3

p.G70delFs

c.208delC

1 paper

NM_198334.3

p.L74F

c.220C>T

1 paper

NM_198334.3

p.T75delFs

c.224delG