Varaico: Literature-Extracted Genetic Variants

Gene:TP53BP2
Variant:p.V504A

TP53BP2

153 papers

RefSeq Summary

This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protei...

Gene Aliases

HGNC Name

tumor protein p53 binding protein 2

HGNC Alias Symbols

PPP1R13A; ASPP2; 53BP2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001031685.3
p.V504A
c.1511T>C
Surrounding Variants
1 paper
NM_001031685.3
p.A502_V504del3
c.1504_1511del9
1 paper
NM_001031685.3
p.P526P
c.1578A>G
1 paper
NM_001031685.3
p.G534R
c.1600G>C
1 paper
NM_001031685.3
p.G534R
c.1600G>A
1 paper
NM_001031685.3
p.K551I
c.1652A>T
1 paper
NM_001031685.3
p.G569G
c.1707C>T
1 paper
NM_001031685.3
p.A586D
c.1757C>A
1 paper
NM_001031685.3
p.G626E
c.1877G>A
3 papers
NM_005426.3
p.Q505H
c.1515G>T
NM_001031685.3
p.Q634H
c.1902G>T
3 papers
NM_005426.3
p.Q505H
c.1515G>C
NM_001031685.3
p.Q634H
c.1902G>C
1 paper
NM_001031685.3
p.G644W
c.1930G>T
1 paper
NM_001031685.3
p.V650Splc
c.1948+483A>G
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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."