TBC1D31 c.34G>T ;(p.G12C)

Variant ID: 8-124085043-G-T

NM_145647.3(TBC1D31):c.34G>T;(p.G12C)

This variant was identified in 3 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: TBC1D31: G12C; rs150445562
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx, sheet 1
View BVdb publication page



Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.

Plos One
Reis, Viviane Neri de Souza VN; Kitajima, João Paulo JP; Tahira, Ana Carolina AC; Feio-Dos-Santos, Ana Cecília AC; Fock, Rodrigo Ambrósio RA; Lisboa, Bianca Cristina Garcia BC; Simões, Sérgio Nery SN; Krepischi, Ana C V AC; Rosenberg, Carla C; Lourenço, Naila Cristina NC; Passos-Bueno, Maria Rita MR; Brentani, Helena H
Publication Date: 2017

Variant appearance in text: TBC1D31: G12C; rs150445562
PubMed Link: 28118382
Variant Present in the following documents:
  • pone.0170386.s007.xlsx, sheet 1
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: WDR67: G12C
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page