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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TDP1

Variant:p.P598L

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr14:90043109 C>T

NM_018319.4

p.P598L

c.1793C>T

Tyr-DNA_phospho

Exome: 0.0% (AC=33, hom=0)Genome: 0.0% (AC=3, hom=0)8 overlapping SVs

Surrounding Variants

1 paper

chr14:90033173 C>T

NM_018319.4

p.P571L

c.1712C>T

Tyr-DNA_phospho

exact variant not in gnomAD8 overlapping SVs

1 paper

chr14:90033166 A>G

NM_018319.4

p.T569A

c.1705A>G

Tyr-DNA_phospho

Exome: 0.0% (AC=702, hom=4)Genome: 0.4% (AC=582, hom=2)8 overlapping SVs

3 papers

chr14:90033158 C>T

NM_018319.4

p.P566L

c.1697C>T

Tyr-DNA_phospho

Exome: 0.0% (AC=6, hom=0)Genome: n/a8 overlapping SVs

1 paper

chr14:90033152 A>G

NM_018319.4

p.Q564R

c.1691A>G

Tyr-DNA_phospho

Exome: 0.0% (AC=1, hom=0)Genome: n/a8 overlapping SVs

1 paper

chr14:90033113 A>C

NM_018319.4

p.D551A

c.1652A>C

Tyr-DNA_phospho

exact variant not in gnomAD8 overlapping SVs

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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."