RIN2 c.1642G>C ;(p.V548L)

Variant ID: 20-19956311-G-C

NM_018993.3(RIN2):c.1642G>C;(p.V548L)

This variant was identified in 2 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



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