Varaico: Literature-Extracted Genetic Variants

Gene:GLB1L
Variant:p.L13P

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.L13P
c.38T>C
Surrounding Variants
1 paper
NM_001286423.2
p.R10H
c.29G>A
1 paper
NM_001286423.2
p.R28Q
c.83G>A
1 paper
NM_001286423.2
p.V31I
c.91G>A
1 paper
NM_001286423.2
p.R34M
c.101G>T
1 paper
NM_001286423.2
p.R38W
c.112C>T
1 paper
NM_001286423.2
p.D42E
c.126C>G
1 paper
NM_001286423.2
p.D42E
c.126C>A
1 paper
NM_001286423.2
p.G43W
c.127G>T
1 paper
NM_001286423.2
p.P45L
c.134C>T
1 paper
NM_001286423.2
p.S52R
c.154A>C
1 paper
NM_001286423.2
p.S52R
c.156C>G
1 paper
NM_001286423.2
p.S52R
c.156C>A
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