Varaico: Literature-Extracted Genetic Variants

Gene:TDP1
Variant:p.E95D

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
2 papers
NM_018319.4
p.E95D
c.285G>C
Surrounding Variants
2 papers
NM_018319.4
p.E95D
c.285G>T
3 papers
NM_018319.4
p.P101L
c.302C>T
1 paper
NM_018319.4
p.Q102Q
c.306G>A
1 paper
NM_018319.4
p.C88G
c.262T>G
1 paper
NM_018319.4
p.K107K
c.321A>G
1 paper
NM_018319.4
p.Q82R
c.245A>G
6 papers
NM_018319.4
p.S81A
c.241T>G
1 paper
NM_018319.4
p.I110I
c.330C>T
1 paper
NM_018319.4
p.G80A
c.239G>C
1 paper
NM_018319.4
p.K111R
c.332A>G
1 paper
NM_018319.4
p.E113fs
c.337_338fs
1 paper
NM_018319.4
p.K114I
c.341A>T
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