TLN2 c.5974G>A ;(p.D1992N)

Variant ID: 15-63088416-G-A

NM_015059.2(TLN2):c.5974G>A;(p.D1992N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.

Blood
Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD
Publication Date: 2022-10-06

Variant appearance in text: TLN2: Asp1992Asn; rs774483219
PubMed Link: 36201743
Variant Present in the following documents:
  • BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6
View BVdb publication page



A high definition picture of somatic mutations in chronic lymphoproliferative disorder of natural killer cells.

Blood Cancer Journal
Gasparini, Vanessa Rebecca VR; Binatti, Andrea A; Coppe, Alessandro A; Teramo, Antonella A; Vicenzetto, Cristina C; Calabretto, Giulia G; BarilĂ , Gregorio G; Barizza, Annica A; Giussani, Edoardo E; Facco, Monica M; Mustjoki, Satu S; Semenzato, Gianpietro G; Zambello, Renato R; Bortoluzzi, Stefania S
Publication Date: 2020-04-22

Variant appearance in text: TLN2: Asp1992Asn
PubMed Link: 32321919
Variant Present in the following documents:
  • 41408_2020_309_MOESM4_ESM.pdf
View BVdb publication page