FOXI1 c.677C>T ;(p.T226I)

Variant ID: 5-169535155-C-T

NM_012188.4(FOXI1):c.677C>T;(p.T226I)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: FOXI1: 677C>T; Thr226Ile
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic regulation of post-translational modification of two distinct proteins.

Nature Communications
Landini, Arianna A; Trbojević-Akmačić, Irena I; Navarro, Pau P; Tsepilov, Yakov A YA; Sharapov, Sodbo Z SZ; Vučković, Frano F; Polašek, Ozren O; Hayward, Caroline C; Petrović, Tea T; Vilaj, Marija M; Aulchenko, Yurii S YS; Lauc, Gordan G; Wilson, James F JF; Klarić, Lucija L
Publication Date: 2022-03-24

Variant appearance in text: rs115399307
PubMed Link: 35332118
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_29189.pdf
View BVdb publication page



Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.

Plos One
Fidalgo, Felipe F; Torrezan, Giovana Tardin GT; Sá, Bianca Costa Soares de BCS; Barros, Bruna Durães de Figueiredo BDF; Moredo, Luciana Facure LF; Valieris, Renan R; de Souza, Sandro J SJ; Duprat, João Pereira JP; Krepischi, Ana Cristina Victorino ACV; Carraro, Dirce Maria DM
Publication Date: 2022

Variant appearance in text: FOXI1: 677C>T; Thr226Ile; rs115399307
PubMed Link: 35085295
Variant Present in the following documents:
  • pone.0262419.s002.xlsx, sheet 1
View BVdb publication page



Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.

Plos One
Fidalgo, Felipe F; Torrezan, Giovana Tardin GT; Sá, Bianca Costa Soares de BCS; Barros, Bruna Durães de Figueiredo BDF; Moredo, Luciana Facure LF; Valieris, Renan R; de Souza, Sandro J SJ; Duprat, João Pereira JP; Krepischi, Ana Cristina Victorino ACV; Carraro, Dirce Maria DM
Publication Date: 2022

Variant appearance in text: FOXI1: 677C>T; Thr226Ile; rs115399307
PubMed Link: 35085295
Variant Present in the following documents:
  • pone.0262419.s002.xlsx, sheet 1
View BVdb publication page



Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.

Human Genetics
Smits, Jeroen J JJ; de Bruijn, Suzanne E SE; Lanting, Cornelis P CP; Oostrik, Jaap J; O'Gorman, Luke L; Mantere, Tuomo T; , ; Cremers, Frans P M FPM; Roosing, Susanne S; Yntema, Helger G HG; de Vrieze, Erik E; Derks, Ronny R; Hoischen, Alexander A; Pegge, Sjoert A H SAH; Neveling, Kornelia K; Pennings, Ronald J E RJE; Kremer, Hannie H
Publication Date: 2022-04

Variant appearance in text: FOXI1: Thr226Ile
PubMed Link: 34410491
Variant Present in the following documents:
  • Main text
  • 439_2021_Article_2336.pdf
View BVdb publication page



Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: FOXI1: T226I
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
  • mmc6.xlsx, sheet 3
  • mmc6.xlsx, sheet 2
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: FOXI1: T226I; rs115399307
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx, sheet 1
View BVdb publication page



Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Frontiers In Pharmacology
Cornelius, Albert A; Foley, Jessica J; Bond, Jeffrey J; Nagulapally, Abhinav B AB; Steinbrecher, Julie J; Hendricks, William P D WPD; Rich, Maria M; Yendrembam, Sangeeta S; Bergendahl, Genevieve G; Trent, Jeffrey M JM; Sholler, Giselle S GS
Publication Date: 2017

Variant appearance in text: FOXI1: T226I; rs115399307
PubMed Link: 28993730
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
View BVdb publication page



Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss.

Peerj
Pique, Lynn M LM; Brennan, Marie-Luise ML; Davidson, Colin J CJ; Schaefer, Frederick F; Greinwald, John J; Schrijver, Iris I
Publication Date: 2014

Variant appearance in text: FOXI1: 677C>T; Thr226Ile; rs115399307
PubMed Link: 24860705
Variant Present in the following documents:
  • Main text
  • peerj-02-384.pdf
View BVdb publication page