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.K66N

c.198G>C

Surrounding Variants

1 paper

NM_000404.4

p.P61_K66delFs

c.181_197del17

1 paper

NM_000404.4

p.D67Y

c.199G>T

2 papers

NM_000404.4

p.D67N

c.199G>A

1 paper

NM_000404.4

p.K66R

c.197A>G

2 papers

NM_000404.4

p.K66E

c.196A>G

1 paper

NM_000404.4

p.W65C

c.195G>T

1 paper

NM_000404.4

p.W65C

c.195G>C

2 papers

NM_000404.4

p.W65*

c.195G>A

1 paper

NM_000404.4

p.D67E

c.201C>G

1 paper

NM_000404.4

p.W65S

c.194G>C

1 paper

NM_000404.4

p.W65*

c.194G>A

13 papers

NM_000404.4

p.R68W

c.202C>T