Varaico: Literature-Extracted Genetic Variants

Gene:TDP1
Variant:p.H493R

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
58 papers
NM_018319.4
p.H493R
c.1478A>G
Surrounding Variants
5 papers
NM_018319.4
p.H493N
c.1477C>A
1 paper
NM_018319.4
p.P492P
c.1476A>G
1 paper
NM_018319.4
p.M491L
c.1471A>C
1 paper
NM_018319.4
p.M491L
c.1471A>T
1 paper
NM_018319.4
p.R487H
c.1460G>A
3 papers
NM_018319.4
p.R487C
c.1459C>T
1 paper
NM_018319.4
p.S481S
c.1443A>G
1 paper
NM_018319.4
p.S514N
c.1541G>A
3 papers
NM_018319.4
p.H478Y
c.1432C>T
1 paper
NM_018319.4
p.A467T
c.1399G>A
1 paper
NM_018319.4
p.S459fs
c.1375_1376fs
1 paper
NM_018319.4
p.S459fs
c.1375_1376fs
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