TRIP6 c.688G>T ;(p.V230F)

Variant ID: 7-100466441-G-T

NM_003302.2(TRIP6):c.688G>T;(p.V230F)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


KLK3 SNP-SNP interactions for prediction of prostate cancer aggressiveness.

Scientific Reports
Lin, Hui-Yi HY; Huang, Po-Yu PY; Cheng, Chia-Ho CH; Tung, Heng-Yuan HY; Fang, Zhide Z; Berglund, Anders E AE; Chen, Ann A; French-Kwawu, Jennifer J; Harris, Darian D; Pow-Sang, Julio J; Yamoah, Kosj K; Cleveland, John L JL; Awasthi, Shivanshu S; Rounbehler, Robert J RJ; Gerke, Travis T; Dhillon, Jasreman J; Eeles, Rosalind R; Kote-Jarai, Zsofia Z; Muir, Kenneth K; , ; Schleutker, Johanna J; Pashayan, Nora N; , ; Neal, David E DE; Nielsen, Sune F SF; Nordestgaard, Børge G BG; Gronberg, Henrik H; Wiklund, Fredrik F; Giles, Graham G GG; Haiman, Christopher A CA; Travis, Ruth C RC; Stanford, Janet L JL; Kibel, Adam S AS; Cybulski, Cezary C; Khaw, Kay-Tee KT; Maier, Christiane C; Thibodeau, Stephen N SN; Teixeira, Manuel R MR; Cannon-Albright, Lisa L; Brenner, Hermann H; Kaneva, Radka R; Pandha, Hardev H; , ; Srinivasan, Srilakshmi S; Clements, Judith J; Batra, Jyotsna J; Park, Jong Y JY
Publication Date: 2021-04-29

Variant appearance in text: rs2075756
PubMed Link: 33927218
Variant Present in the following documents:
  • Main text
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs2075756
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_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: rs2075756
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability.

Nature Genetics
Hysi, Pirro G PG; Valdes, Ana M AM; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Bataille, Veronique V; Visconti, Alessia A; Hemani, Gibran G; McMahon, George G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Lin, Bochao D BD; Willemsen, Gonneke G; Jan Hottenga, Jouke J; Vuckovic, Dragana D; Girotto, Giorgia G; Gandin, Ilaria I; Sala, Cinzia C; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex W AW; Chen, Yan Y; Zeng, Changqing C; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Mackey, David A DA; Falchi, Mario M; Boomsma, Dorret I DI; Martin, Nicholas G NG; , ; Hinds, David A DA; Kayser, Manfred M; Spector, Timothy D TD
Publication Date: 2018-05

Variant appearance in text: rs2075756
PubMed Link: 29662168
Variant Present in the following documents:
  • NIHMS76542-supplement-Supplementary_notes_and_tables.pdf
View BVdb publication page



Causal Effect of Plasminogen Activator Inhibitor Type 1 on Coronary Heart Disease.

Journal Of The American Heart Association
Song, Ci C; Burgess, Stephen S; Eicher, John D JD; O'Donnell, Christopher J CJ; Johnson, Andrew D AD
Publication Date: 2017-05-26

Variant appearance in text: rs2075756
PubMed Link: 28550093
Variant Present in the following documents:
  • Main text
  • JAH3-6-e004918.pdf
  • JAH3-6-e004918-s001.pdf
View BVdb publication page



Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway.

Scientific Reports
Andreoletti, Gaia G; Shakhnovich, Valentina V; Christenson, Kathy K; Coelho, Tracy T; Haggarty, Rachel R; Afzal, Nadeem A NA; Batra, Akshay A; Petersen, Britt-Sabina BS; Mort, Matthew M; Beattie, R Mark RM; Ennis, Sarah S
Publication Date: 2017-04-19

Variant appearance in text: rs2075756
PubMed Link: 28422189
Variant Present in the following documents:
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs2075756
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: rs2075756
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



On the stability of the Bayenv method in assessing human SNP-environment associations.

Human Genomics
Blair, Lily M LM; Granka, Julie M JM; Feldman, Marcus W MW
Publication Date: 2014-01-09

Variant appearance in text: rs2075756
PubMed Link: 24405978
Variant Present in the following documents:
  • Main text
  • 1479-7364-8-1.pdf
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs2075756
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation.

Blood
Huang, Jie J; Sabater-Lleal, Maria M; Asselbergs, Folkert W FW; Tregouet, David D; Shin, So-Youn SY; Ding, Jingzhong J; Baumert, Jens J; Oudot-Mellakh, Tiphaine T; Folkersen, Lasse L; Johnson, Andrew D AD; Smith, Nicholas L NL; Williams, Scott M SM; Ikram, Mohammad A MA; Kleber, Marcus E ME; Becker, Diane M DM; Truong, Vinh V; Mychaleckyj, Josyf C JC; Tang, Weihong W; Yang, Qiong Q; Sennblad, Bengt B; Moore, Jason H JH; Williams, Frances M K FM; Dehghan, Abbas A; Silbernagel, Günther G; Schrijvers, Elisabeth M C EM; Smith, Shelly S; Karakas, Mahir M; Tofler, Geoffrey H GH; Silveira, Angela A; Navis, Gerjan J GJ; Lohman, Kurt K; Chen, Ming-Huei MH; Peters, Annette A; Goel, Anuj A; Hopewell, Jemma C JC; Chambers, John C JC; Saleheen, Danish D; Lundmark, Per P; Psaty, Bruce M BM; Strawbridge, Rona J RJ; Boehm, Bernhard O BO; Carter, Angela M AM; Meisinger, Christa C; Peden, John F JF; Bis, Joshua C JC; McKnight, Barbara B; Öhrvik, John J; Taylor, Kent K; Franzosi, Maria Grazia MG; Seedorf, Udo U; Collins, Rory R; Franco-Cereceda, Anders A; Syvänen, Ann-Christine AC; Goodall, Alison H AH; Yanek, Lisa R LR; Cushman, Mary M; Müller-Nurasyid, Martina M; Folsom, Aaron R AR; Basu, Saonli S; Matijevic, Nena N; van Gilst, Wiek H WH; Kooner, Jaspal S JS; Hofman, Albert A; Danesh, John J; Clarke, Robert R; Meigs, James B JB; , ; Kathiresan, Sekar S; Reilly, Muredach P MP; , ; Klopp, Norman N; Harris, Tamara B TB; Winkelmann, Bernhard R BR; Grant, Peter J PJ; Hillege, Hans L HL; Watkins, Hugh H; , ; Spector, Timothy D TD; Becker, Lewis C LC; Tracy, Russell P RP; März, Winfried W; Uitterlinden, Andre G AG; Eriksson, Per P; Cambien, Francois F; , ; Morange, Pierre-Emmanuel PE; Koenig, Wolfgang W; Soranzo, Nicole N; van der Harst, Pim P; Liu, Yongmei Y; O'Donnell, Christopher J CJ; Hamsten, Anders A
Publication Date: 2012-12-06

Variant appearance in text: rs2075756
PubMed Link: 22990020
Variant Present in the following documents:
  • Main text
View BVdb publication page



Adaptations to climate-mediated selective pressures in humans.

Plos Genetics
Hancock, Angela M AM; Witonsky, David B DB; Alkorta-Aranburu, Gorka G; Beall, Cynthia M CM; Gebremedhin, Amha A; Sukernik, Rem R; Utermann, Gerd G; Pritchard, Jonathan K JK; Coop, Graham G; Di Rienzo, Anna A
Publication Date: 2011-04

Variant appearance in text: rs2075756
PubMed Link: 21533023
Variant Present in the following documents:
  • Main text
  • pgen.1001375.pdf
View BVdb publication page