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

2 papers

NM_198335.4

p.R422L

c.1265G>T

Surrounding Variants

1 paper

NM_198334.3

p.G415S

c.1243G>A

1 paper

NM_198334.3

p.F416F

c.1248T>C

1 paper

NM_198334.3

p.K436R

c.1307A>G

1 paper

NM_198334.3

p.Y438Y

c.1314T>C

1 paper

NM_198334.3

p.P449_R450insCG

c.1345_1349ins6

1 paper

NM_198334.3

p.R450C

c.1348C>T

1 paper

NM_198334.3

p.M452K

c.1355T>A

1 paper

NM_198335.4

p.T405R

c.1214C>G

1 paper

NM_198334.3

p.Q378*

c.1132C>T

1 paper

NM_198334.3

p.S373F

c.1118C>T

1 paper

NM_198334.3

p.L463L

c.1389G>A

1 paper

NM_198334.3

p.V464insFs

c.1391dupT