AFAP1L1 c.934C>T ;(p.R312*)

Variant ID: 5-148691681-C-T

NM_152406.2(AFAP1L1):c.934C>T;(p.R312*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: AFAP1L1: R312X; rs376857041
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx, sheet 1
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: AFAP1L1: R312*
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-13.xlsx, sheet 1
  • NIHMS551112-supplement-5.xlsx, sheet 1
  • NIHMS551112-supplement-15.xlsx, sheet 1
View BVdb publication page