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

4 papers

NM_198334.3

p.N171S

c.512A>G

Surrounding Variants

1 paper

NM_198334.3

p.R173*

c.517C>T

1 paper

NM_198334.3

p.R173Q

c.518G>A

1 paper

NM_198334.3

p.E177A

c.530A>C

1 paper

NM_198334.3

p.H180insFs

c.540dupT

1 paper

NM_198334.3

p.A183D

c.548C>A

1 paper

NM_198334.3

p.R154W

c.460C>T

1 paper

NM_198334.3

p.I150insFs

c.449_450insCG

1 paper

NM_198334.3

p.G145_P146insFs

c.433_437dup5

1 paper

NM_198334.3

p.P146fs

c.436_437fs

1 paper

NM_198334.3

p.E144G

c.431A>G

1 paper

NM_198334.3

p.E144*

c.430G>T

1 paper

NM_198334.3

p.A143A

c.429T>C