TP53BP1 c.3535A>T ;(p.I1179L)

Variant ID: 15-43724532-T-A

NM_001141980.1(TP53BP1):c.3535A>T;(p.I1179L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: rs3803339
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples.

Scientific Reports
Wang, Jingwen J; Skoog, Tiina T; Einarsdottir, Elisabet E; Kaartokallio, Tea T; Laivuori, Hannele H; Grauers, Anna A; Gerdhem, Paul P; Hytönen, Marjo M; Lohi, Hannes H; Kere, Juha J; Jiao, Hong H
Publication Date: 2016-09-16

Variant appearance in text: rs3803339
PubMed Link: 27633116
Variant Present in the following documents:
  • Main text
  • srep33256.pdf
View BVdb publication page



Exome sequencing in pooled DNA samples to identify maternal pre-eclampsia risk variants.

Scientific Reports
Kaartokallio, Tea T; Wang, Jingwen J; Heinonen, Seppo S; Kajantie, Eero E; Kivinen, Katja K; Pouta, Anneli A; Gerdhem, Paul P; Jiao, Hong H; Kere, Juha J; Laivuori, Hannele H
Publication Date: 2016-07-07

Variant appearance in text: rs3803339
PubMed Link: 27384325
Variant Present in the following documents:
  • Main text
  • srep29085-s2.xls, sheet 1
  • srep29085.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs3803339
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A
Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA
Publication Date: 2014

Variant appearance in text: rs3803339
PubMed Link: 25469153
Variant Present in the following documents:
  • 12979_2014_19_MOESM2_ESM.xls, sheet 1
View BVdb publication page