Varaico: Literature-Extracted Genetic Variants

GLB1

1,485 papers

RefSeq Summary

This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteoly...

Pfam Domains

Glyco_hydro_35aa 40–83UCSCGlycosyl hydrolases family 35

Glyco_hydro_35aa 40–357UCSCGlycosyl hydrolases family 35

BetaGal_ABD_1aa 403–515UCSCBeta-galactosidase, first all-beta domain

Gene Aliases

HGNC Name

galactosidase beta 1

HGNC Previous Symbol

ELNR1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000404.4

p.G414delFs

c.1242delC

Surrounding Variants

3 papers

NM_000404.4

p.F415L

c.1243T>C

3 papers

NM_000404.4

p.F415L

c.1245T>G

3 papers

NM_000404.4

p.F415L

c.1245T>A

2 papers

NM_000404.4

p.G414V

c.1241G>T

1 paper

NM_000404.4

p.Y413C

c.1238A>G

1 paper

NM_000404.4

p.L417P

c.1250T>C

1 paper

NM_000404.4

p.Q411_H412Splc

c.1234-1G>C

1 paper

NM_000404.4

p.Y418F

c.1253A>T

1 paper

NM_001317040.2

p.Y466*

c.1398C>G

1 paper

NM_001317040.2

p.Y466*

c.1398C>A

3 papers

NM_001317040.2

p.R467W

c.1399C>T

NM_000404.4

p.R419W

c.1255C>T

1 paper

NM_000404.4

p.R419Q

c.1256G>A