Varaico: Literature-Extracted Genetic Variants

Gene:TDP1
Variant:p.E144delFs

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.E144delFs
c.430delG
Surrounding Variants
1 paper
NM_018319.4
p.K139R
c.416A>G
1 paper
NM_018319.4
p.L138I
c.412C>A
1 paper
NM_018319.4
p.G149V
c.446G>T
1 paper
NM_018319.4
p.A134V
c.401C>T
5 papers
NM_018319.4
p.A134T
c.400G>A
1 paper
NM_018319.4
p.I154V
c.460A>G
1 paper
NM_018319.4
p.W155R
c.463T>C
1 paper
NM_018319.4
p.D159G
c.476A>G
1 paper
NM_018319.4
p.D159D
c.477T>C
1 paper
NM_018319.4
p.R126S
c.378A>C
1 paper
NM_018319.4
p.R126S
c.378A>T
1 paper
NM_018319.4
p.G161R
c.481G>A
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