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.F32I

c.94T>A

Surrounding Variants

2 papers

NM_000404.4

p.F32L

c.94T>C

1 paper

NM_000404.4

p.F32S

c.95T>C

1 paper

NM_000404.4

p.R30_F32delFs

c.88_94del7

1 paper

NM_000404.4

p.M31I

c.93G>A

2 papers

NM_000404.4

p.F32L

c.96T>G

1 paper

NM_000404.4

p.M31T

c.92T>C

3 papers

NM_000404.4

p.F32L

c.96T>A

1 paper

NM_000404.4

p.R30delFs

c.90delC

1 paper

NM_000404.4

p.R30delFs

c.89_90delCC

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.E33V

c.98A>T