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.R25_N26Splc

c.75+2T>G

Surrounding Variants

1 paper

NM_000404.4

p.R22_R25delFs

c.65_75del11

2 papers

NM_000404.4

p.R25_N26Splc

c.75+1G>C

1 paper

NM_000404.4

p.R25R

c.75C>T

1 paper

NM_000404.4

p.R25R

c.75C>G

2 papers

NM_000404.4

p.R25P

c.74G>C

1 paper

NM_000404.4

p.R25C

c.73C>T

1 paper

NM_000404.4

p.L24L

c.72G>A

1 paper

NM_000404.4

p.L24S

c.71T>C

2 papers

NM_000404.4

p.L24*

c.71T>A

2 papers

NM_000404.4

p.G23delFs

c.69delG

1 paper

NM_000404.4

p.L24fs

c.70_71fs

1 paper

NM_000404.4

p.G23A

c.68G>C