Varaico: Literature-Extracted Genetic Variants

Gene:GLB1L
Variant:p.L379_V380Splc

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.L379_V380Splc
c.1138-2A>T
Surrounding Variants
1 paper
NM_001286423.2
p.P365L
c.1094C>T
1 paper
NM_001286423.2
p.V358A
c.1073T>C
1 paper
NM_001286423.2
p.A441G
c.1322C>G
1 paper
NM_001286423.2
p.L345P
c.1034T>C
1 paper
NM_001286423.2
p.S336C
c.1007C>G
2 papers
NM_001286423.2
p.R321H
c.962G>A
1 paper
NM_001286423.2
p.K319del1
c.955_957delCTT
1 paper
NM_001286423.2
p.I503V
c.1507A>G
1 paper
NM_001286423.2
p.I514T
c.1541T>C
1 paper
NM_001286423.2
p.Q525H
c.1575G>T
1 paper
NM_001286423.2
p.Q525H
c.1575G>C
1 paper
NM_001286423.2
p.Y531N
c.1591T>A
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