Varaico: Literature-Extracted Genetic Variants

Gene:TIPARP
Variant:p.L53L

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.L53L
c.157C>T
Surrounding Variants
1 paper
NM_015508.5
p.R54_P58del0
c.161_172del12
1 paper
NM_015508.5
p.G51R
c.151G>A
1 paper
NM_015508.5
p.G51R
c.151G>C
1 paper
NM_015508.5
p.R47S
c.141A>C
1 paper
NM_015508.5
p.R47S
c.141A>T
1 paper
NM_015508.5
p.I59I
c.177A>C
1 paper
NM_015508.5
p.I59M
c.177A>G
1 paper
NM_015508.5
p.K46_G51del0
c.138_152del15
1 paper
NM_015508.5
p.T62N
c.185C>A
1 paper
NM_015508.5
p.K43T
c.128A>C
1 paper
NM_015508.5
p.K43_D44del1
c.129_131delGGA
1 paper
NM_015508.5
p.K43_G49del0
c.128_145del18
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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."