Varaico: Literature-Extracted Genetic Variants

Gene:GLB1L
Variant:p.F205L

GLB1L

38 papers

Pfam Domains

Glyco_hydro_35aa 38–355UCSCGlycosyl hydrolases family 35
BetaGal_ABD_1aa 401–513UCSCBeta-galactosidase, first all-beta domain
BetaGal_gal-bdaa 538–598UCSCBeta-galactosidase, galactose-binding domain

Gene Aliases

HGNC Name

galactosidase beta 1 like

HGNC Alias Symbol

MGC10771

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001286423.2
p.F205L
c.615C>A
Surrounding Variants
1 paper
NM_001286423.2
p.F205L
c.615C>G
1 paper
NM_001286423.2
p.F205L
c.613T>C
1 paper
NM_001286423.2
p.F195fs
c.583_584fs
1 paper
NM_001286423.2
p.C226F
c.677G>T
1 paper
NM_001286423.2
p.G176_I181delFs
c.528_541del14
1 paper
NM_001286423.2
p.G176D
c.527G>A
1 paper
NM_001286423.2
p.D242N
c.724G>A
1 paper
NM_001286423.2
p.Y168*
c.504T>G
1 paper
NM_001286423.2
p.Y168*
c.504T>A
1 paper
NM_001286423.2
p.R252W
c.754C>T
1 paper
NM_001286423.2
p.A154fs
c.460_461fs
1 paper
NM_001286423.2
p.V261I
c.781G>A
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