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.P729S

c.2185C>T

Surrounding Variants

1 paper

NM_198141.3

p.L722M

c.2164T>A

1 paper

NM_198141.3

p.G718Splc

c.2152+1G>A

1 paper

NM_198141.3

p.E714*

c.2140G>T

1 paper

NM_198141.3

p.K707N

c.2121G>C

1 paper

NM_198141.3

p.K707N

c.2121G>T

1 paper

NM_198141.3

p.Y748C

c.2243A>G

1 paper

NM_198141.3

p.V760L

c.2278G>C

1 paper

NM_198141.3

p.V760L

c.2278G>T

1 paper

NM_198141.3

p.V689L

c.2065G>C

1 paper

NM_198141.3

p.V689_A690ins5

c.2065_2069ins15

1 paper

NM_198141.3

p.V689L

c.2065G>T

1 paper

NM_198141.3

p.W680*

c.2040G>A