TRPV4 c.2518G>A ;(p.E840K)

Variant ID: 12-110221524-C-T

NM_021625.4(TRPV4):c.2518G>A;(p.E840K)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function.

Annals Of Clinical And Translational Neurology
Taga, Arens A; Peyton, Margo A MA; Goretzki, Benedikt B; Gallagher, Thomas Q TQ; Ritter, Ann A; Harper, Amy A; Crawford, Thomas O TO; Hellmich, Ute A UA; Sumner, Charlotte J CJ; McCray, Brett A BA
Publication Date: 2022-03

Variant appearance in text: CMT2C: E840K
PubMed Link: 35170874
Variant Present in the following documents:
  • Main text
  • ACN3-9-375.pdf
View BVdb publication page



Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms.

Journal Of Clinical Medicine
Pensato, Viviana V; Magri, Stefania S; Bella, Eleonora Dalla ED; Tannorella, Pierpaola P; Bersano, Enrica E; Sorarù, Gianni G; Gatti, Marta M; Ticozzi, Nicola N; Taroni, Franco F; Lauria, Giuseppe G; Mariotti, Caterina C; Gellera, Cinzia C
Publication Date: 2020-02-03

Variant appearance in text: TRPV4: 2518G>A; Glu840Lys; rs55728855
PubMed Link: 32028661
Variant Present in the following documents:
  • Main text
  • jcm-09-00412-s001.pdf
  • jcm-09-00412.pdf
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Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis.

Neurology. Genetics
Velilla, Jose J; Marchetti, Michael Mario MM; Toth-Petroczy, Agnes A; Grosgogeat, Claire C; Bennett, Alexis H AH; Carmichael, Nikkola N; Estrella, Elicia E; Darras, Basil T BT; Frank, Natasha Y NY; Krier, Joel J; Gaudet, Rachelle R; Gupta, Vandana A VA
Publication Date: 2019-04

Variant appearance in text: TRPV4: E840K
PubMed Link: 31041394
Variant Present in the following documents:
  • Main text
  • NG2018008672.pdf
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: rs55728855
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
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: TRPV4: E840K
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: TRPV4: E840K; rs55728855
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 4
  • 41467_2017_2688_MOESM20_ESM.xlsx, sheet 5
View BVdb publication page



Family-based whole exome sequencing of atopic dermatitis complicated with cataracts.

Oncotarget
Luo, Wenxin W; Xu, Wangdong W; Xia, Lin L; Xie, Dan D; Wang, Lin L; Guo, Zaipei Z; Cheng, Yue Y; Liu, Yi Y; Li, Weimin W
Publication Date: 2017-08-29

Variant appearance in text: rs55728855
PubMed Link: 28938649
Variant Present in the following documents:
  • Main text
  • oncotarget-08-59446.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: TRPV4: 2518G>A; Glu840Lys
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: TRPV4: E840K; rs55728855
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 8
View BVdb publication page



Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12

Variant appearance in text: TRPV4: E840K; rs55728855
PubMed Link: 27001614
Variant Present in the following documents:
  • NIHMS753666-supplement-2.xlsx, sheet 7
  • NIHMS753666-supplement-2.xlsx, sheet 5
View BVdb publication page



Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

Cell Reports
Gonzaga-Jauregui, Claudia C; Harel, Tamar T; Gambin, Tomasz T; Kousi, Maria M; Griffin, Laurie B LB; Francescatto, Ludmila L; Ozes, Burcak B; Karaca, Ender E; Jhangiani, Shalini N SN; Bainbridge, Matthew N MN; Lawson, Kim S KS; Pehlivan, Davut D; Okamoto, Yuji Y; Withers, Marjorie M; Mancias, Pedro P; Slavotinek, Anne A; Reitnauer, Pamela J PJ; Goksungur, Meryem T MT; Shy, Michael M; Crawford, Thomas O TO; Koenig, Michel M; Willer, Jason J; Flores, Brittany N BN; Pediaditrakis, Igor I; Us, Onder O; Wiszniewski, Wojciech W; Parman, Yesim Y; Antonellis, Anthony A; Muzny, Donna M DM; , ; Katsanis, Nicholas N; Battaloglu, Esra E; Boerwinkle, Eric E; Gibbs, Richard A RA; Lupski, James R JR
Publication Date: 2015-08-18

Variant appearance in text: TRPV4: E840K
PubMed Link: 26257172
Variant Present in the following documents:
  • Main text
View BVdb publication page



A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A
Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA
Publication Date: 2014

Variant appearance in text: rs55728855
PubMed Link: 25469153
Variant Present in the following documents:
  • 12979_2014_19_MOESM2_ESM.xls, sheet 1
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: TRPV4: E840K; rs55728855
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page