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

2 papers

NM_000404.4

p.P10P

c.30T>A

Surrounding Variants

20 papers

NM_000404.4

p.P10L

c.29C>T

1 paper

NM_000404.4

p.L11P

c.32T>C

1 paper

NM_000404.4

p.P10A

c.28C>G

1 paper

NM_000404.4

p.L9_P10insFs

c.27_28insG

1 paper

NM_000404.4

p.L9L

c.27C>A

1 paper

NM_000404.4

p.L12V

c.34T>G

1 paper

NM_000404.4

p.L9R

c.26T>G

8 papers

NM_000404.4

p.L12L

c.34T>C

3 papers

NM_000404.4

p.L9P

c.26T>C

1 paper

NM_000404.4

p.L12M

c.34T>A

1 paper

NM_000404.4

p.L9H

c.26T>A

4 papers

NM_000404.4

p.L12*

c.35T>A