DNAH1 c.1321G>T ;(p.V441L)

Variant ID: 3-52378540-G-T

NM_015512.4(DNAH1):c.1321G>T;(p.V441L)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: DNAH1: V441L
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: DNAH1: V441L
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications
Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T
Publication Date: 2020-01-03

Variant appearance in text: DNAH1: V441L
PubMed Link: 31900393
Variant Present in the following documents:
  • 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: DNAH1: V441L
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.

Nature Genetics
Heid, Iris M IM; Jackson, Anne U AU; Randall, Joshua C JC; Winkler, Thomas W TW; Qi, Lu L; Steinthorsdottir, Valgerdur V; Thorleifsson, Gudmar G; Zillikens, M Carola MC; Speliotes, Elizabeth K EK; Mägi, Reedik R; Workalemahu, Tsegaselassie T; White, Charles C CC; Bouatia-Naji, Nabila N; Harris, Tamara B TB; Berndt, Sonja I SI; Ingelsson, Erik E; Willer, Cristen J CJ; Weedon, Michael N MN; Luan, Jian'an J; Vedantam, Sailaja S; Esko, Tõnu T; Kilpeläinen, Tuomas O TO; Kutalik, Zoltán Z; Li, Shengxu S; Monda, Keri L KL; Dixon, Anna L AL; Holmes, Christopher C CC; Kaplan, Lee M LM; Liang, Liming L; Min, Josine L JL; Moffatt, Miriam F MF; Molony, Cliona C; Nicholson, George G; Schadt, Eric E EE; Zondervan, Krina T KT; Feitosa, Mary F MF; Ferreira, Teresa T; Lango Allen, Hana H; Weyant, Robert J RJ; Wheeler, Eleanor E; Wood, Andrew R AR; , ; Estrada, Karol K; Goddard, Michael E ME; Lettre, Guillaume G; Mangino, Massimo M; Nyholt, Dale R DR; Purcell, Shaun S; Smith, Albert Vernon AV; Visscher, Peter M PM; Yang, Jian J; McCarroll, Steven A SA; Nemesh, James J; Voight, Benjamin F BF; Absher, Devin D; Amin, Najaf N; Aspelund, Thor T; Coin, Lachlan L; Glazer, Nicole L NL; Hayward, Caroline C; Heard-Costa, Nancy L NL; Hottenga, Jouke-Jan JJ; Johansson, Asa A; Johnson, Toby T; Kaakinen, Marika M; Kapur, Karen K; Ketkar, Shamika S; Knowles, Joshua W JW; Kraft, Peter P; Kraja, Aldi T AT; Lamina, Claudia C; Leitzmann, Michael F MF; McKnight, Barbara B; Morris, Andrew P AP; Ong, Ken K KK; Perry, John R B JR; Peters, Marjolein J MJ; Polasek, Ozren O; Prokopenko, Inga I; Rayner, Nigel W NW; Ripatti, Samuli S; Rivadeneira, Fernando F; Robertson, Neil R NR; Sanna, Serena S; Sovio, Ulla U; Surakka, Ida I; Teumer, Alexander A; van Wingerden, Sophie S; Vitart, Veronique V; Zhao, Jing Hua JH; Cavalcanti-Proença, Christine C; Chines, Peter S PS; Fisher, Eva E; Kulzer, Jennifer R JR; Lecoeur, Cecile C; Narisu, Narisu N; Sandholt, Camilla C; Scott, Laura J LJ; Silander, Kaisa K; Stark, Klaus K; Tammesoo, Mari-Liis ML; Teslovich, Tanya M TM; Timpson, Nicholas John NJ; Watanabe, Richard M RM; Welch, Ryan R; Chasman, Daniel I DI; Cooper, Matthew N MN; Jansson, John-Olov JO; Kettunen, Johannes J; Lawrence, Robert W RW; Pellikka, Niina N; Perola, Markus M; Vandenput, Liesbeth L; Alavere, Helene H; Almgren, Peter P; Atwood, Larry D LD; Bennett, Amanda J AJ; Biffar, Reiner R; Bonnycastle, Lori L LL; Bornstein, Stefan R SR; Buchanan, Thomas A TA; Campbell, Harry H; Day, Ian N M IN; Dei, Mariano M; Dörr, Marcus M; Elliott, Paul P; Erdos, Michael R MR; Eriksson, Johan G JG; Freimer, Nelson B NB; Fu, Mao M; Gaget, Stefan S; Geus, Eco J C EJ; Gjesing, Anette P AP; Grallert, Harald H; Grässler, Jürgen J; Groves, Christopher J CJ; Guiducci, Candace C; Hartikainen, Anna-Liisa AL; Hassanali, Neelam N; Havulinna, Aki S AS; Herzig, Karl-Heinz KH; Hicks, Andrew A AA; Hui, Jennie J; Igl, Wilmar W; Jousilahti, Pekka P; Jula, Antti A; Kajantie, Eero E; Kinnunen, Leena L; Kolcic, Ivana I; Koskinen, Seppo S; Kovacs, Peter P; Kroemer, Heyo K HK; Krzelj, Vjekoslav V; Kuusisto, Johanna J; Kvaloy, Kirsti K; Laitinen, Jaana J; Lantieri, Olivier O; Lathrop, G Mark GM; Lokki, Marja-Liisa ML; Luben, Robert N RN; Ludwig, Barbara B; McArdle, Wendy L WL; McCarthy, Anne A; Morken, Mario A MA; Nelis, Mari M; Neville, Matt J MJ; Paré, Guillaume G; Parker, Alex N AN; Peden, John F JF; Pichler, Irene I; Pietiläinen, Kirsi H KH; Platou, Carl G P CG; Pouta, Anneli A; Ridderstråle, Martin M; Samani, Nilesh J NJ; Saramies, Jouko J; Sinisalo, Juha J; Smit, Jan H JH; Strawbridge, Rona J RJ; Stringham, Heather M HM; Swift, Amy J AJ; Teder-Laving, Maris M; Thomson, Brian B; Usala, Gianluca G; van Meurs, Joyce B J JB; van Ommen, Gert-Jan GJ; Vatin, Vincent V; Volpato, Claudia B CB; Wallaschofski, Henri H; Walters, G Bragi GB; Widen, Elisabeth E; Wild, Sarah H SH; Willemsen, Gonneke G; Witte, Daniel R DR; Zgaga, Lina L; Zitting, Paavo P; Beilby, John P JP; James, Alan L AL; Kähönen, Mika M; Lehtimäki, Terho T; Nieminen, Markku S MS; Ohlsson, Claes C; Palmer, Lyle J LJ; Raitakari, Olli O; Ridker, Paul M PM; Stumvoll, Michael M; Tönjes, Anke A; Viikari, Jorma J; Balkau, Beverley B; Ben-Shlomo, Yoav Y; Bergman, Richard N RN; Boeing, Heiner H; Smith, George Davey GD; Ebrahim, Shah S; Froguel, Philippe P; Hansen, Torben T; Hengstenberg, Christian C; Hveem, Kristian K; Isomaa, Bo B; Jørgensen, Torben T; Karpe, Fredrik F; Khaw, Kay-Tee KT; Laakso, Markku M; Lawlor, Debbie A DA; Marre, Michel M; Meitinger, Thomas T; Metspalu, Andres A; Midthjell, Kristian K; Pedersen, Oluf O; Salomaa, Veikko V; Schwarz, Peter E H PE; Tuomi, Tiinamaija T; Tuomilehto, Jaakko J; Valle, Timo T TT; Wareham, Nicholas J NJ; Arnold, Alice M AM; Beckmann, Jacques S JS; Bergmann, Sven S; Boerwinkle, Eric E; Boomsma, Dorret I DI; Caulfield, Mark J MJ; Collins, Francis S FS; Eiriksdottir, Gudny G; Gudnason, Vilmundur V; Gyllensten, Ulf U; Hamsten, Anders A; Hattersley, Andrew T AT; Hofman, Albert A; Hu, Frank B FB; Illig, Thomas T; Iribarren, Carlos C; Jarvelin, Marjo-Riitta MR; Kao, W H Linda WH; Kaprio, Jaakko J; Launer, Lenore J LJ; Munroe, Patricia B PB; Oostra, Ben B; Penninx, Brenda W BW; Pramstaller, Peter P PP; Psaty, Bruce M BM; Quertermous, Thomas T; Rissanen, Aila A; Rudan, Igor I; Shuldiner, Alan R AR; Soranzo, Nicole N; Spector, Timothy D TD; Syvanen, Ann-Christine AC; Uda, Manuela M; Uitterlinden, André A; Völzke, Henry H; Vollenweider, Peter P; Wilson, James F JF; Witteman, Jacqueline C JC; Wright, Alan F AF; Abecasis, Gonçalo R GR; Boehnke, Michael M; Borecki, Ingrid B IB; Deloukas, Panos P; Frayling, Timothy M TM; Groop, Leif C LC; Haritunians, Talin T; Hunter, David J DJ; Kaplan, Robert C RC; North, Kari E KE; O'Connell, Jeffrey R JR; Peltonen, Leena L; Schlessinger, David D; Strachan, David P DP; Hirschhorn, Joel N JN; Assimes, Themistocles L TL; Wichmann, H-Erich HE; Thorsteinsdottir, Unnur U; van Duijn, Cornelia M CM; Stefansson, Kari K; Cupples, L Adrienne LA; Loos, Ruth J F RJ; Barroso, Inês I; McCarthy, Mark I MI; Fox, Caroline S CS; Mohlke, Karen L KL; Lindgren, Cecilia M CM
Publication Date: 2010-11

Variant appearance in text: DNAH1: Val441Leu
PubMed Link: 20935629
Variant Present in the following documents:
  • Main text
View BVdb publication page