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.D275A

c.824A>C

Surrounding Variants

1 paper

NM_000404.4

p.D275G

c.824A>G

1 paper

NM_000404.4

p.D275E

c.825T>G

1 paper

NM_000404.4

p.D275E

c.825T>A

1 paper

NM_000404.4

p.H276R

c.827A>G

1 paper

NM_000404.4

p.H276P

c.827A>C

2 papers

NM_000404.4

p.W277R

c.829T>C

1 paper

NM_000404.4

p.W277R

c.829T>A

1 paper

NM_000404.4

p.W273*

c.819G>A

68 papers

NM_000404.4

p.W273L

c.818G>T

1 paper

NM_000404.4

p.W277S

c.830G>C

2 papers

NM_000404.4

p.W273*

c.818G>A

7 papers

NM_000404.4

p.W273delins

c.817_818delinsCT