Varaico: Literature-Extracted Genetic Variants

Gene:TDP1

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
1–12 of 145 variants
58 papers
NM_018319.4
p.H493R
c.1478A>G
6 papers
NM_018319.4
p.S81A
c.241T>G
5 papers
NM_018319.4
p.A134T
c.400G>A
5 papers
NM_018319.4
p.H493N
c.1477C>A
4 papers
NM_018319.4
p.R304*
c.910C>T
3 papers
NM_018319.4
p.P101L
c.302C>T
3 papers
NM_018319.4
p.H478Y
c.1432C>T
3 papers
NM_018319.4
p.R487C
c.1459C>T
3 papers
NM_018319.4
p.P566L
c.1697C>T
2 papers
NM_018319.4
p.S61A
c.181T>G
2 papers
NM_018319.4
p.E95D
c.285G>C
2 papers
NM_018319.4
p.E95D
c.285G>T
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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."