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.V689L

c.2065G>T

Surrounding Variants

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.W680*

c.2040G>A

1 paper

NM_198141.3

p.W680*

c.2039G>A

1 paper

NM_198141.3

p.L676P

c.2027T>C

1 paper

NM_198141.3

p.Y674S

c.2021A>C

1 paper

NM_198141.3

p.Y674C

c.2021A>G

2 papers

NM_198141.3

p.E672*

c.2014G>T

2 papers

NM_198141.3

p.R667*

c.1999C>T

1 paper

NM_198141.3

p.L665I

c.1993C>A

1 paper

NM_198141.3

p.L657P

c.1970T>C

1 paper

NM_198141.3

p.R653*

c.1957C>T