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.R30W

c.88A>T

Surrounding Variants

2 papers

NM_000404.4

p.Q29H

c.87G>T

1 paper

NM_000404.4

p.Q29_R30insFs

c.87_88insC

4 papers

NM_000404.4

p.Q29H

c.87G>C

2 papers

NM_000404.4

p.Q29Q

c.87G>A

1 paper

NM_000404.4

p.Q29_R30delFs

c.85_88del4

1 paper

NM_000404.4

p.T28_R30delFs

c.82_88del7

1 paper

NM_000404.4

p.Q29Fs

c.85_87delinsTFs

2 papers

NM_000404.4

p.R30R

c.90G>A

1 paper

NM_000404.4

p.Q29_R30delFs

c.87_88delTC

1 paper

NM_000404.4

p.Q29L

c.86A>T

1 paper

NM_000404.4

p.Q29R

c.86A>G

1 paper

NM_000404.4

p.Q29P

c.86A>C