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.S533L

c.1598C>T

Surrounding Variants

1 paper

NM_198334.3

p.L557fs

c.1669_1670fs

1 paper

NM_198334.3

p.L557delFs

c.1670delA

1 paper

NM_198334.3

p.Q561P

c.1682A>C

1 paper

NM_198334.3

p.E567K

c.1699G>A

1 paper

NM_198334.3

p.H572R

c.1715A>G

1 paper

NM_198334.3

p.V579_H580Splc

c.1738-21G>C

1 paper

NM_198334.3

p.M581I

c.1743G>T

1 paper

NM_198334.3

p.M581I

c.1743G>C

1 paper

NM_198334.3

p.M581I

c.1743G>A

1 paper

NM_198335.4

p.N536T

c.1607A>C

1 paper

NM_198334.3

p.R590L

c.1769G>T

1 paper

NM_198335.4

p.R612P

c.1835G>C