AVPR1A c.924C>T ;(p.F308=)

Variant ID: 12-63543693-G-A

NM_000706.4(AVPR1A):c.924C>T;(p.F308=)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: rs113578517
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 3
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs113578517
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Diversity and impact of rare variants in genes encoding the platelet G protein-coupled receptors.

Thrombosis And Haemostasis
Jones, Matthew L ML; Norman, Jane E JE; Morgan, Neil V NV; Mundell, Stuart J SJ; Lordkipanidzé, Marie M; Lowe, Gillian C GC; Daly, Martina E ME; Simpson, Michael A MA; Drake, Sian S; Watson, Steve P SP; Mumford, Andrew D AD; ,
Publication Date: 2015-04

Variant appearance in text: rs113578517
PubMed Link: 25567036
Variant Present in the following documents:
  • TH-113-04-14080679-s002.xlsx, sheet 1
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs113578517
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page