RIN2 c.1642G>A ;(p.V548M)

Variant ID: 20-19956311-G-A

NM_018993.3(RIN2):c.1642G>A;(p.V548M)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-13

Variant appearance in text: rs181298473
PubMed Link: 30545397
Variant Present in the following documents:
  • 13045_2018_679_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: RIN2: V548M; rs181298473
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 3
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: RIN2: V548M
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



The complete genome sequence of a Neanderthal from the Altai Mountains.

Nature
Prüfer, Kay K; Racimo, Fernando F; Patterson, Nick N; Jay, Flora F; Sankararaman, Sriram S; Sawyer, Susanna S; Heinze, Anja A; Renaud, Gabriel G; Sudmant, Peter H PH; de Filippo, Cesare C; Li, Heng H; Mallick, Swapan S; Dannemann, Michael M; Fu, Qiaomei Q; Kircher, Martin M; Kuhlwilm, Martin M; Lachmann, Michael M; Meyer, Matthias M; Ongyerth, Matthias M; Siebauer, Michael M; Theunert, Christoph C; Tandon, Arti A; Moorjani, Priya P; Pickrell, Joseph J; Mullikin, James C JC; Vohr, Samuel H SH; Green, Richard E RE; Hellmann, Ines I; Johnson, Philip L F PL; Blanche, Hélène H; Cann, Howard H; Kitzman, Jacob O JO; Shendure, Jay J; Eichler, Evan E EE; Lein, Ed S ES; Bakken, Trygve E TE; Golovanova, Liubov V LV; Doronichev, Vladimir B VB; Shunkov, Michael V MV; Derevianko, Anatoli P AP; Viola, Bence B; Slatkin, Montgomery M; Reich, David D; Kelso, Janet J; Pääbo, Svante S
Publication Date: 2014-01-02

Variant appearance in text: rs181298473
PubMed Link: 24352235
Variant Present in the following documents:
  • NIHMS541101-supplement-1.pdf
View BVdb publication page