Varaico: Literature-Extracted Genetic Variants

Gene:TDP1
Variant:p.S14R

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
1 paper
NM_018319.4
p.S14R
c.40A>C
Surrounding Variants
1 paper
NM_018319.4
p.S14C
c.40A>T
1 paper
NM_018319.4
p.S14R
c.42T>A
1 paper
NM_018319.4
p.S14R
c.42T>G
1 paper
NM_018319.4
p.T11T
c.33C>A
1 paper
NM_018319.4
p.E17K
c.49G>A
1 paper
NM_018319.4
p.E17Q
c.49G>C
1 paper
NM_018319.4
p.E19K
c.55G>A
1 paper
NM_018319.4
p.E19E
c.57G>A
1 paper
NM_018319.4
p.E20K
c.58G>A
1 paper
NM_018319.4
p.E21Q
c.61G>C
1 paper
NM_018319.4
p.D6G
c.17A>G
1 paper
NM_018319.4
p.E4K
c.10G>A
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