Varaico: Literature-Extracted Genetic Variants

Gene:TP53BP2
Variant:p.Q1077E

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.Q1077E
c.3229C>G
Surrounding Variants
1 paper
NM_001031685.3
p.D1080Y
c.3238G>T
1 paper
NM_001031685.3
p.C1089G
c.3265T>G
1 paper
NM_001031685.3
p.D1097H
c.3289G>C
4 papers
NM_005426.3
p.R978C
c.2932C>T
NM_001031685.3
p.R1107C
c.3319C>T
1 paper
NM_001031685.3
p.R1117H
c.3350G>A
1 paper
NM_001031685.3
p.G1121_L1122Splc
c.3364-140C>T
1 paper
NM_001031685.3
p.E1041*
c.3121G>T
1 paper
NM_001031685.3
p.V1024Fs
c.3072delinsTGFs
1 paper
NM_001031685.3
p.S1007A
c.3019T>G
1 paper
NM_001031685.3
p.W999Splc
c.2996+6A>G
1 paper
NM_001031685.3
p.G998delFs
c.2993delC
1 paper
NM_001031685.3
p.D997_G998delins
c.2991_2992delinsGC
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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."