Varaico: Literature-Extracted Genetic Variants

Gene:TDP1
Variant:p.G313R

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.G313R
c.937G>A
Surrounding Variants
1 paper
NM_018319.4
p.G313V
c.938G>T
1 paper
NM_018319.4
p.T309I
c.926C>T
1 paper
NM_018319.4
p.A321G
c.962C>G
1 paper
NM_018319.4
p.R304Q
c.911G>A
4 papers
NM_018319.4
p.R304*
c.910C>T
1 paper
NM_018319.4
p.W297*
c.890G>A
1 paper
NM_018319.4
p.E337ins1
c.1010_1011insGTG
1 paper
NM_018319.4
p.D346H
c.1036G>C
1 paper
NM_018319.4
p.D346fs
c.1036_1037fs
1 paper
NM_018319.4
p.N369T
c.1106A>C
1 paper
NM_018319.4
p.N369N
c.1107T>C
2 papers
NM_018319.4
p.R374S
c.1122A>C
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