Varaico: Literature-Extracted Genetic Variants

Gene:GLB1L2
Variant:p.F64L

GLB1L2

64 papers

Pfam Domains

Glyco_hydro_35aa 53–368UCSCGlycosyl hydrolases family 35
BetaGal_ABD_1aa 412–524UCSCBeta-galactosidase, first all-beta domain
BetaGal_gal-bdaa 548–607UCSCBeta-galactosidase, galactose-binding domain

Gene Aliases

HGNC Name

galactosidase beta 1 like 2

HGNC Previous Name

galactosidase, beta 1-like 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001370461.1
p.F64L
c.190T>C
Surrounding Variants
1 paper
NM_001370461.1
p.F64L
c.192C>A
1 paper
NM_001370461.1
p.F64L
c.192C>G
2 papers
NM_001370461.1
p.W62*
c.186G>A
2 papers
NM_001370461.1
p.W62*
c.185G>A
1 paper
NM_001370461.1
p.S59F
c.176C>T
1 paper
NM_001370461.1
p.R72C
c.214C>T
1 paper
NM_001370461.1
p.L47L
c.141G>T
1 paper
NM_001370461.1
p.M85K
c.254T>A
2 papers
NM_001370461.1
p.R41C
c.121C>T
1 paper
NM_001370461.1
p.D110V
c.329A>T
1 paper
NM_001370461.1
p.F111I
c.331T>A
1 paper
NM_001370461.1
p.E126G
c.377A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."