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.S54G

c.160A>G

Surrounding Variants

1 paper

NM_000404.4

p.S54I

c.161G>T

6 papers

NM_000404.4

p.S54N

c.161G>A

1 paper

NM_000404.4

p.G53V

c.158G>T

1 paper

NM_000404.4

p.G53E

c.158G>A

1 paper

NM_000404.4

p.S54delFs

c.161delC

1 paper

NM_000404.4

p.I55N

c.164T>A

2 papers

NM_000404.4

p.I55delFs

c.163delT

2 papers

NM_000404.4

p.S52L

c.155C>T

2 papers

NM_000404.4

p.S52A

c.154T>G

1 paper

NM_000404.4

p.S52P

c.154T>C

1 paper

NM_000404.4

p.S52T

c.154T>A

1 paper

NM_000404.4

p.H56_Y57insA

c.166_170ins3