Varaico: Literature-Extracted Genetic Variants

Gene:TNKS2
Variant:p.E130A

TNKS2

101 papers

Pfam Domains

Ank_2aa 28–121UCSCAnkyrin repeats (3 copies)
Ankaa 123–155UCSCAnkyrin repeat
Ankaa 210–242UCSCAnkyrin repeat
Ank_2aa 240–307UCSCAnkyrin repeats (3 copies)
Ank_2aa 376–463UCSCAnkyrin repeats (3 copies)
Ank_2aa 467–556UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

tankyrase 2

HGNC Alias Symbols

TNKL; TANK2; PARP-5b; PARP-5c; PARP5B; PARP5C; pART6; ARTD6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025235.4
p.E130A
c.389A>C
Surrounding Variants
1 paper
NM_025235.4
p.R112*
c.334C>T
1 paper
NM_025235.4
p.P94S
c.280C>T
1 paper
NM_025235.4
p.G69G
c.207G>A
1 paper
NM_025235.4
p.Q145*
c.433C>T
1 paper
NM_025235.4
p.D165A
c.494A>C
1 paper
NM_025235.4
p.E191V
c.572A>T
1 paper
NM_025235.4
p.H238Y
c.712C>T
1 paper
NM_025235.4
p.K240N
c.720A>T
1 paper
NM_025235.4
p.G243Splc
c.729-67T>C
2 papers
NM_025235.4
p.S253F
c.758C>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."