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

2 papers

NM_198141.3

p.E88K

c.262G>A

Surrounding Variants

1 paper

NM_198141.3

p.L70R

c.209T>G

1 paper

NM_198141.3

p.K67_V68Splc

c.202-2A>T

1 paper

NM_198141.3

p.D117H

c.349G>C

1 paper

NM_198141.3

p.A124V

c.371C>T

1 paper

NM_198141.3

p.D125H

c.373G>C

1 paper

NM_198141.3

p.L130P

c.389T>C

1 paper

NM_198141.3

p.D142delFs

c.424_425delGA

1 paper

NM_198141.3

p.D142fs

c.424_425fs

1 paper

NM_198141.3

p.S145C

c.434C>G

1 paper

NM_198141.3

p.N154Y

c.460A>T

1 paper

NM_198141.3

p.S155F

c.464C>T

1 paper

NM_198141.3

p.Q165*

c.493C>T