APC c.136-230C>A

Variant ID: 5-112101793-C-A

NM_000038.5(APC):c.136-230C>A

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Npj Precision Oncology
Yoshizawa, Takahiro T; Uchibori, Ken K; Araki, Mitsugu M; Matsumoto, Shigeyuki S; Ma, Biao B; Kanada, Ryo R; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Ariyasu, Ryo R; Kitazono, Satoru S; Ninomiya, Hironori H; Takeuchi, Kengo K; Yanagitani, Noriko N; Takagi, Satoshi S; Kishi, Kazuma K; Fujita, Naoya N; Okuno, Yasushi Y; Nishio, Makoto M; Katayama, Ryohei R
Publication Date: 2021-04-16

Variant appearance in text: APC: 136-230C>A; rs2464805
PubMed Link: 33863983
Variant Present in the following documents:
  • 41698_2021_170_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: APC: 136-230C>A; rs2464805
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.

Scientific Reports
Castellanos, Elisabeth E; Gel, Bernat B; Rosas, Inma I; Tornero, Eva E; Santín, Sheila S; Pluvinet, Raquel R; Velasco, Juan J; Sumoy, Lauro L; Del Valle, Jesús J; Perucho, Manuel M; Blanco, Ignacio I; Navarro, Matilde M; Brunet, Joan J; Pineda, Marta M; Feliubadaló, Lidia L; Capellá, Gabi G; Lázaro, Conxi C; Serra, Eduard E
Publication Date: 2017-01-04

Variant appearance in text: APC: 136-230C>A; rs2464805
PubMed Link: 28051113
Variant Present in the following documents:
  • srep39348-s1.pdf
View BVdb publication page



Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Plos One
Wang, Jingbo J; Wang, Xu X; Zhao, Mingjue M; Choo, Su Pin SP; Ong, Sin Jen SJ; Ong, Simon Y K SY; Chong, Samuel S SS; Teo, Yik Ying YY; Lee, Caroline G L CG
Publication Date: 2014

Variant appearance in text: rs2464805
PubMed Link: 25372392
Variant Present in the following documents:
  • Main text
  • pone.0111694.pdf
View BVdb publication page



Targeted re-sequencing identified rs3106189 at the 5' UTR of TAPBP and rs1052918 at the 3' UTR of TCF3 to be associated with the overall survival of colorectal cancer patients.

Plos One
Shao, Jiaofang J; Lou, Xiaoyan X; Wang, Jun J; Zhang, Jing J; Chen, Chen C; Hua, Dasong D; Mo, Fan F; Han, Xu X; Zheng, Shu S; Lin, Biaoyang B
Publication Date: 2013

Variant appearance in text: rs2464805
PubMed Link: 23940558
Variant Present in the following documents:
  • pone.0070307.s002.xlsx, sheet 1
View BVdb publication page