Varaico: Literature-Extracted Genetic Variants

GANC

68 papers

RefSeq Summary

Glycosyl hydrolase enzymes hydrolyse the glycosidic bond between two or more carbohydrates, or between a carbohydrate and a non-carbohydrate moiety. This gene encodes a member of glycosyl hydrolases f...

Pfam Domains

Gal_mutarotas_2aa 71–293UCSCGlycosyl hydrolase 31 N-terminal galactose mutarotase-like domain

Glyco_hydro_31_2ndaa 355–683UCSCGlycosyl hydrolases family 31 TIM-barrel domain

Glyco_hydro_31_3rdaa 691–779UCSCGlycosyl hydrolase family 31 C-terminal domain

Gene Aliases

HGNC Name

glucosidase alpha, neutral C

HGNC Previous Name

glucosidase, alpha; neutral C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_198141.3

p.M601V

c.1801A>G

Surrounding Variants

2 papers

NM_198141.3

p.I610V

c.1828A>G

1 paper

NM_198141.3

p.T589I

c.1766C>T

1 paper

NM_198141.3

p.C613fs

c.1837_1838fs

1 paper

NM_198141.3

p.T585I

c.1754C>T

1 paper

NM_198141.3

p.V583G

c.1748T>G

1 paper

NM_198141.3

p.V583M

c.1747G>A

1 paper

NM_198141.3

p.R631L

c.1892G>T

1 paper

NM_198141.3

p.W632*

c.1895G>A

1 paper

NM_198141.3

p.W632*

c.1896G>A

1 paper

NM_198141.3

p.F641L

c.1921T>C

1 paper

NM_198141.3

p.F641L

c.1923C>A

1 paper

NM_198141.3

p.F641L

c.1923C>G