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.R38W

c.112C>T

Surrounding Variants

5 papers

NM_000404.4

p.R38G

c.112C>G

2 papers

NM_000404.4

p.R38L

c.113G>T

4 papers

NM_000404.4

p.R38Q

c.113G>A

2 papers

NM_000404.4

p.D39N

c.115G>A

1 paper

NM_000404.4

p.Y36del1

c.106_108delATA

1 paper

NM_000404.4

p.D39V

c.116A>T

2 papers

NM_000404.4

p.D39A

c.116A>C

3 papers

NM_000404.4

p.Y36C

c.107A>G

3 papers

NM_000404.4

p.Y36S

c.107A>C

1 paper

NM_000404.4

p.Y36N

c.106T>A

3 papers

NM_000404.4

p.S40F

c.119C>T

1 paper

NM_000404.4

p.D35E

c.105C>A