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.W36*

c.107G>A

Surrounding Variants

1 paper

NM_198141.3

p.W36*

c.108G>A

1 paper

NM_198141.3

p.Q33H

c.99G>C

1 paper

NM_198141.3

p.Q33H

c.99G>T

1 paper

NM_198141.3

p.R31Splc

c.93-2A>G

5 papers

NM_198141.3

p.Q44R

c.131A>G

1 paper

NM_198141.3

p.A15D

c.44C>A

2 papers

NM_198141.3

p.L11V

c.31C>G

1 paper

NM_198141.3

p.K67_V68Splc

c.201+2363G>A

1 paper

NM_198141.3

p.K67_V68Splc

c.202-2A>T

1 paper

NM_198141.3

p.L70R

c.209T>G

2 papers

NM_198141.3

p.E88K

c.262G>A