Varaico: Literature-Extracted Genetic Variants

Gene:TIPARP
Variant:p.N283S

TIPARP

220 papers

RefSeq Summary

This gene encodes a member of the poly(ADP-ribose) polymerase superfamily. Studies of the mouse ortholog have shown that the encoded protein catalyzes histone poly(ADP-ribosyl)ation and may be involve...

Pfam Domains

PARPaa 471–650UCSCPoly(ADP-ribose) polymerase catalytic domain

Gene Aliases

HGNC Name

TCDD inducible poly(ADP-ribose) polymerase

HGNC Alias Symbols

DKFZP434J214; DKFZp686N0351; DDF1; PARP7; PARP-7; PARP-1; pART14; RM1; ARTD14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015508.5
p.N283S
c.848A>G
Surrounding Variants
2 papers
NM_015508.5
p.D284D
c.852T>C
1 paper
NM_015508.5
p.V281L
c.841G>C
1 paper
NM_015508.5
p.V281L
c.841G>T
1 paper
NM_015508.5
p.S280delFs
c.840delT
1 paper
NM_015508.5
p.Q279Q
c.837G>A
1 paper
NM_015508.5
p.D299G
c.896A>G
1 paper
NM_015508.5
p.H267Y
c.799C>T
1 paper
NM_015508.5
p.M301_R302insFs
c.903_904insC
2 papers
NM_015508.5
p.V263G
c.788T>G
1 paper
NM_015508.5
p.M303I
c.909G>A
1 paper
NM_015508.5
p.M303I
c.909G>C
1 paper
NM_015508.5
p.M303I
c.909G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."