RET c.1512G>A ;(p.V504=)

Variant ID: 10-43606903-G-A

NM_020975.4(RET):c.1512G>A;(p.V504=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Intratumoral heterogeneity as a predictive biomarker in anti-PD-(L)1 therapies for non-small cell lung cancer.

Molecular Cancer
Fang, Wenfeng W; Jin, Haoxuan H; Zhou, Huaqiang H; Hong, Shaodong S; Ma, Yuxiang Y; Zhang, Yaxiong Y; Su, Xiaofan X; Chen, Longyun L; Yang, Yunpeng Y; Xu, Shengqiang S; Liao, Yuwei Y; He, Yuming Y; Zhao, Hongyun H; Huang, Yan Y; Gao, Zhibo Z; Zhang, Li L
Publication Date: 2021-02-23

Variant appearance in text: RET: 1512G>A; Val504Val
PubMed Link: 33622313
Variant Present in the following documents:
  • 12943_2021_1331_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.

Proceedings Of The National Academy Of Sciences Of The United States Of America
de Pontual, Loïc L; Zaghloul, Norann A NA; Thomas, Sophie S; Davis, Erica E EE; McGaughey, David M DM; Dollfus, Hélène H; Baumann, Clarisse C; Bessling, Seneca L SL; Babarit, Candice C; Pelet, Anna A; Gascue, Cecilia C; Beales, Philip P; Munnich, Arnold A; Lyonnet, Stanislas S; Etchevers, Heather H; Attie-Bitach, Tania T; Badano, Jose L JL; McCallion, Andrew S AS; Katsanis, Nicholas N; Amiel, Jeanne J
Publication Date: 2009-08-18

Variant appearance in text: RET: 1512G>A
PubMed Link: 19666486
Variant Present in the following documents:
  • Main text
View BVdb publication page