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

7 papers

NM_000404.4

p.S434L

c.1301C>T

Surrounding Variants

1 paper

NM_000404.4

p.S433A

c.1297T>G

1 paper

NM_000404.4

p.P435P

c.1305C>T

15 papers

NM_000404.4

p.L436F

c.1306C>T

NM_001135602.3

p.L305F

c.913C>T

2 papers

NM_000404.4

p.P435delFs

c.1303delG

4 papers

NM_000404.4

p.N437S

c.1310A>G

4 papers

NM_000404.4

p.N437delFs

c.1310delT

4 papers

NM_000404.4

p.G438A

c.1313G>C

24 papers

NM_000404.4

p.G438E

c.1313G>A

1 paper

NM_000404.4

p.A430V

c.1289C>T

1 paper

NM_000404.4

p.A430E

c.1289C>A

1 paper

NM_000404.4

p.G438insFs

c.1313dupG

1 paper

NM_000404.4

p.V439fs

c.1315_1316fs