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

3 papers

NM_000404.4

p.E186A

c.557A>C

Surrounding Variants

1 paper

NM_000404.4

p.E186Q

c.556G>C

1 paper

NM_000404.4

p.E186D

c.558A>T

1 paper

NM_000404.4

p.E186D

c.558A>C

1 paper

NM_000404.4

p.V185G

c.554T>G

2 papers

NM_000404.4

p.E188*

c.562G>T

1 paper

NM_000404.4

p.E188_Y189insT

c.562_566ins3

2 papers

NM_000404.4

p.Q184_V185Splc

c.553-1G>A

1 paper

NM_000404.4

p.E188K

c.562G>A

3 papers

NM_000404.4

p.Q184_V185Splc

c.553-2A>G

1 paper

NM_000404.4

p.E188G

c.563A>G

2 papers

NM_000404.4

p.E188D

c.564A>T

2 papers

NM_000404.4

p.E188E

c.564A>G