CFAP107 c.509C>T ;(p.P170L)

Variant ID: 1-12820808-C-T

NM_152290.2(CFAP107):c.509C>T;(p.P170L)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Efficient Mining of Variants From Trios for Ventricular Septal Defect Association Study.

Frontiers In Genetics
Jiang, Peng P; Hu, Yaofei Y; Wang, Yiqi Y; Zhang, Jin J; Zhu, Qinghong Q; Bai, Lin L; Tong, Qiang Q; Li, Tao T; Zhao, Liang L
Publication Date: 2019

Variant appearance in text: C1orf158: P170L
PubMed Link: 31440271
Variant Present in the following documents:
  • Table_1.xlsx, sheet 5
View BVdb publication page



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: C1orf158: P170L; rs41301981
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx, sheet 1
View BVdb publication page



The landscape of somatic mutation in sporadic Chinese colorectal cancer.

Oncotarget
Liu, Zhe Z; Yang, Chao C; Li, Xiangchun X; Luo, Wen W; Roy, Bhaskar B; Xiong, Teng T; Zhang, Xiuqing X; Yang, Huanming H; Wang, Jian J; Ye, Zhenhao Z; Chen, Yang Y; Song, Jinghe J; Ma, Shuai S; Zhou, Yong Y; Yang, Min M; Fang, Xiaodong X; Du, Jie J
Publication Date: 2018-06-08

Variant appearance in text: C1orf158: 509C>T; rs41301981
PubMed Link: 29937994
Variant Present in the following documents:
  • oncotarget-09-27412-s004.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing identified mutational profiles of high-grade colon adenomas.

Oncotarget
Lee, Sung Hak SH; Jung, Seung Hyun SH; Kim, Tae-Min TM; Rhee, Je-Keun JK; Park, Hyeon-Chun HC; Kim, Min Sung MS; Kim, Sung Soo SS; An, Chang Hyeok CH; Lee, Sug Hyung SH; Chung, Yeun-Jun YJ
Publication Date: 2017-01-24

Variant appearance in text: C1orf158: P170L
PubMed Link: 28179590
Variant Present in the following documents:
  • oncotarget-08-6579-s002.xlsx, sheet 1
View BVdb publication page



XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015

Variant appearance in text: C1orf158: P170L; rs41301981
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 10
  • pone.0123569.s008.xls, sheet 5
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: C1orf158: P170L; rs41301981
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs41301981
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page