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.L13P

c.38T>C

Surrounding Variants

1 paper

NM_000404.4

p.L13R

c.38T>G

1 paper

NM_000404.4

p.L13Q

c.38T>A

1 paper

NM_000404.4

p.L13L

c.39G>C

3 papers

NM_000404.4

p.L13_V14insA

c.37_41ins3

1 paper

NM_000404.4

p.L13M

c.37C>A

1 paper

NM_000404.4

p.L12F

c.36G>T

1 paper

NM_000404.4

p.L13_V14delins

c.39_40delinsCT

1 paper

NM_000404.4

p.V14A

c.41T>C

4 papers

NM_000404.4

p.L12*

c.35T>A

1 paper

NM_000404.4

p.V14D

c.41T>A

1 paper

NM_000404.4

p.L12V

c.34T>G

8 papers

NM_000404.4

p.L12L

c.34T>C