Varaico: Literature-Extracted Genetic Variants

Gene:TDP1
Variant:p.L168delFs

TDP1

163 papers

RefSeq Summary

The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I ...

Pfam Domains

Tyr-DNA_phosphoaa 165–582UCSCTyrosyl-DNA phosphodiesterase

Gene Aliases

HGNC Name

tyrosyl-DNA phosphodiesterase 1

HGNC Alias Symbols

FLJ11090; SCAN1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_018319.4
p.L168delFs
c.502delC
Surrounding Variants
2 papers
NM_018319.4
p.L168fs
c.502_503fs
1 paper
NM_018319.4
p.G161R
c.481G>A
1 paper
NM_018319.4
p.G161R
c.481G>C
1 paper
NM_018319.4
p.D159D
c.477T>C
1 paper
NM_018319.4
p.D159G
c.476A>G
1 paper
NM_018319.4
p.N179T
c.536A>C
1 paper
NM_018319.4
p.N179S
c.536A>G
1 paper
NM_018319.4
p.W155R
c.463T>C
1 paper
NM_018319.4
p.S180C
c.539C>G
1 paper
NM_018319.4
p.I154V
c.460A>G
1 paper
NM_018319.4
p.I185insFs
c.554dupT
1 paper
NM_018319.4
p.G149V
c.446G>T
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