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

3 papers

NM_198335.4

p.R839W

c.2515C>T

NM_198334.3

p.R817W

c.2449C>T

Surrounding Variants

1 paper

NM_198334.3

p.R817R

c.2451G>A

1 paper

NM_198335.4

p.R837*

c.2509C>T

1 paper

NM_198335.4

p.M845T

c.2534T>C

1 paper

NM_198334.3

p.S835N

c.2504G>A

1 paper

NM_198334.3

p.Q837*

c.2509C>T

1 paper

NM_198334.3

p.T851P

c.2551A>C

1 paper

NM_198334.3

p.H850_N853delFs

c.2548_2557del10

1 paper

NM_198335.4

p.R886*

c.2656C>T

1 paper

NM_198334.3

p.G787S

c.2359G>A

1 paper

NM_198334.3

p.S874S

c.2622C>G

1 paper

NM_198334.3

p.E774V

c.2321A>T

1 paper

NM_198334.3

p.E774*

c.2320G>T