CLSTN3 c.625A>C ;(p.S209R)

Variant ID: 12-7288432-A-C

NM_014718.3(CLSTN3):c.625A>C;(p.S209R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: rs7302230
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
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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: rs7302230
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants.

Nature Genetics
, ; , ; Burton, Paul R PR; Clayton, David G DG; Cardon, Lon R LR; Craddock, Nick N; Deloukas, Panos P; Duncanson, Audrey A; Kwiatkowski, Dominic P DP; McCarthy, Mark I MI; Ouwehand, Willem H WH; Samani, Nilesh J NJ; Todd, John A JA; Donnelly, Peter P; Barrett, Jeffrey C JC; Davison, Dan D; Easton, Doug D; Evans, David M DM; Leung, Hin-Tak HT; Marchini, Jonathan L JL; Morris, Andrew P AP; Spencer, Chris C A CC; Tobin, Martin D MD; Attwood, Antony P AP; Boorman, James P JP; Cant, Barbara B; Everson, Ursula U; Hussey, Judith M JM; Jolley, Jennifer D JD; Knight, Alexandra S AS; Koch, Kerstin K; Meech, Elizabeth E; Nutland, Sarah S; Prowse, Christopher V CV; Stevens, Helen E HE; Taylor, Niall C NC; Walters, Graham R GR; Walker, Neil M NM; Watkins, Nicholas A NA; Winzer, Thilo T; Jones, Richard W RW; McArdle, Wendy L WL; Ring, Susan M SM; Strachan, David P DP; Pembrey, Marcus M; Breen, Gerome G; St Clair, David D; Caesar, Sian S; Gordon-Smith, Katharine K; Jones, Lisa L; Fraser, Christine C; Green, Elaine K EK; Grozeva, Detelina D; Hamshere, Marian L ML; Holmans, Peter A PA; Jones, Ian R IR; Kirov, George G; Moskivina, Valentina V; Nikolov, Ivan I; O'Donovan, Michael C MC; Owen, Michael J MJ; Collier, David A DA; Elkin, Amanda A; Farmer, Anne A; Williamson, Richard R; McGuffin, Peter P; Young, Allan H AH; Ferrier, I Nicol IN; Ball, Stephen G SG; Balmforth, Anthony J AJ; Barrett, Jennifer H JH; Bishop, Timothy D TD; Iles, Mark M MM; Maqbool, Azhar A; Yuldasheva, Nadira N; Hall, Alistair S AS; Braund, Peter S PS; Dixon, Richard J RJ; Mangino, Massimo M; Stevens, Suzanne S; Thompson, John R JR; Bredin, Francesca F; Tremelling, Mark M; Parkes, Miles M; Drummond, Hazel H; Lees, Charles W CW; Nimmo, Elaine R ER; Satsangi, Jack J; Fisher, Sheila A SA; Forbes, Alastair A; Lewis, Cathryn M CM; Onnie, Clive M CM; Prescott, Natalie J NJ; Sanderson, Jeremy J; Matthew, Christopher G CG; Barbour, Jamie J; Mohiuddin, M Khalid MK; Todhunter, Catherine E CE; Mansfield, John C JC; Ahmad, Tariq T; Cummings, Fraser R FR; Jewell, Derek P DP; Webster, John J; Brown, Morris J MJ; Lathrop, Mark G MG; Connell, John J; Dominiczak, Anna A; Marcano, Carolina A Braga CA; Burke, Beverley B; Dobson, Richard R; Gungadoo, Johannie J; Lee, Kate L KL; Munroe, Patricia B PB; Newhouse, Stephen J SJ; Onipinla, Abiodun A; Wallace, Chris C; Xue, Mingzhan M; Caulfield, Mark M; Farrall, Martin M; Barton, Anne A; , ; Bruce, Ian N IN; Donovan, Hannah H; Eyre, Steve S; Gilbert, Paul D PD; Hilder, Samantha L SL; Hinks, Anne M AM; John, Sally L SL; Potter, Catherine C; Silman, Alan J AJ; Symmons, Deborah P M DP; Thomson, Wendy W; Worthington, Jane J; Dunger, David B DB; Widmer, Barry B; Frayling, Timothy M TM; Freathy, Rachel M RM; Lango, Hana H; Perry, John R B JR; Shields, Beverley M BM; Weedon, Michael N MN; Hattersley, Andrew T AT; Hitman, Graham A GA; Walker, Mark M; Elliott, Kate S KS; Groves, Christopher J CJ; Lindgren, Cecilia M CM; Rayner, Nigel W NW; Timpson, Nicolas J NJ; Zeggini, Eleftheria E; Newport, Melanie M; Sirugo, Giorgio G; Lyons, Emily E; Vannberg, Fredrik F; Hill, Adrian V S AV; Bradbury, Linda A LA; Farrar, Claire C; Pointon, Jennifer J JJ; Wordsworth, Paul P; Brown, Matthew A MA; Franklyn, Jayne A JA; Heward, Joanne M JM; Simmonds, Matthew J MJ; Gough, Stephen C L SC; Seal, Sheila S; , ; Stratton, Michael R MR; Rahman, Nazneen N; Ban, Maria M; Goris, An A; Sawcer, Stephen J SJ; Compston, Alastair A; Conway, David D; Jallow, Muminatou M; Newport, Melanie M; Sirugo, Giorgio G; Rockett, Kirk A KA; Bumpstead, Suzannah J SJ; Chaney, Amy A; Downes, Kate K; Ghori, Mohammed J R MJ; Gwilliam, Rhian R; Hunt, Sarah E SE; Inouye, Michael M; Keniry, Andrew A; King, Emma E; McGinnis, Ralph R; Potter, Simon S; Ravindrarajah, Rathi R; Whittaker, Pamela P; Widden, Claire C; Withers, David D; Cardin, Niall J NJ; Davison, Dan D; Ferreira, Teresa T; Pereira-Gale, Joanne J; Hallgrimsdo'ttir, Ingeleif B IB; Howie, Bryan N BN; Su, Zhan Z; Teo, Yik Ying YY; Vukcevic, Damjan D; Bentley, David D; Brown, Matthew A MA; Compston, Alastair A; Farrall, Martin M; Hall, Alistair S AS; Hattersley, Andrew T AT; Hill, Adrian V S AV; Parkes, Miles M; Pembrey, Marcus M; Stratton, Michael R MR; Mitchell, Sarah L SL; Newby, Paul R PR; Brand, Oliver J OJ; Carr-Smith, Jackie J; Pearce, Simon H S SH; McGinnis, R R; Keniry, A A; Deloukas, P P; Reveille, John D JD; Zhou, Xiaodong X; Sims, Anne-Marie AM; Dowling, Alison A; Taylor, Jacqueline J; Doan, Tracy T; Davis, John C JC; Savage, Laurie L; Ward, Michael M MM; Learch, Thomas L TL; Weisman, Michael H MH; Brown, Mathew M
Publication Date: 2007-11

Variant appearance in text: rs7302230
PubMed Link: 17952073
Variant Present in the following documents:
  • Main text
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