Varaico: Literature-Extracted Genetic Variants

Gene:GLB1L2
Variant:p.T254A

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.T254A
c.760A>G
Surrounding Variants
1 paper
NM_001370461.1
p.T261A
c.781A>G
1 paper
NM_001370461.1
p.F283L
c.847T>C
1 paper
NM_001370461.1
p.F283L
c.849T>A
1 paper
NM_001370461.1
p.F283L
c.849T>G
2 papers
NM_001370461.1
p.S285L
c.854C>T
1 paper
NM_001370461.1
p.S285S
c.855G>A
1 paper
NM_001370461.1
p.V302M
c.904G>A
1 paper
NM_001370461.1
p.G319R
c.955G>A
1 paper
NM_001370461.1
p.G319R
c.955G>C
1 paper
NM_001370461.1
p.A329T
c.985G>A
1 paper
NM_001370461.1
p.G244V
c.731G>T
1 paper
NM_001370461.1
p.D235E
c.705T>A
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