Varaico: Literature-Extracted Genetic Variants

Gene:TDP1
Variant:p.R126S

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.R126S
c.378A>C
Surrounding Variants
1 paper
NM_018319.4
p.R126S
c.378A>T
1 paper
NM_018319.4
p.G122S
c.364G>A
1 paper
NM_018319.4
p.D121H
c.361G>C
5 papers
NM_018319.4
p.A134T
c.400G>A
1 paper
NM_018319.4
p.A134V
c.401C>T
1 paper
NM_018319.4
p.S117A
c.349T>G
2 papers
NM_018319.4
p.I116V
c.346A>G
1 paper
NM_018319.4
p.L138I
c.412C>A
1 paper
NM_018319.4
p.K114I
c.341A>T
1 paper
NM_018319.4
p.K139R
c.416A>G
1 paper
NM_018319.4
p.E113fs
c.337_338fs
1 paper
NM_018319.4
p.K111R
c.332A>G
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