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.F193Y

c.578T>A

Surrounding Variants

1 paper

NM_000404.4

p.F193I

c.577T>A

2 papers

NM_000404.4

p.A194T

c.580G>A

1 paper

NM_000404.4

p.Y192C

c.575A>G

8 papers

NM_000404.4

p.Y192H

c.574T>C

1 paper

NM_000404.4

p.S191R

c.573C>G

1 paper

NM_000404.4

p.S191R

c.573C>A

1 paper

NM_000404.4

p.C195F

c.584G>T

9 papers

NM_000404.4

p.S191N

c.572G>A

1 paper

NM_000404.4

p.S191R

c.571A>C

1 paper

NM_000404.4

p.D196N

c.586G>A

1 paper

NM_000404.4

p.G190V

c.569G>T

2 papers

NM_000404.4

p.G190insFs

c.569_570insA