CDSN c.52A>C ;(p.M18L)

Variant ID: 6-31088145-T-G

NM_001264.4(CDSN):c.52A>C;(p.M18L)

This variant was identified in 16 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: CDSN: M18L
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
View BVdb publication page



Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs3095318
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology
Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y
Publication Date: 2021

Variant appearance in text: CDSN: M18L
PubMed Link: 35095878
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genomic Predictors of Asthma Phenotypes and Treatment Response.

Frontiers In Pediatrics
Hernandez-Pacheco, Natalia N; Pino-Yanes, Maria M; Flores, Carlos C
Publication Date: 2019

Variant appearance in text: rs3095318
PubMed Link: 30805318
Variant Present in the following documents:
  • Main text
  • fped-07-00006.pdf
View BVdb publication page



X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: N/A
PubMed Link: 30389958
Variant Present in the following documents:
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: rs3095318
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications
Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ
Publication Date: 2018-09-04

Variant appearance in text: N/A
PubMed Link: 30181556
Variant Present in the following documents:
View BVdb publication page



Patient-specific molecular alterations are associated with metastatic clear cell renal cell cancer progressing under tyrosine kinase inhibitor therapy.

Oncotarget
Dietz, Steffen S; Sültmann, Holger H; Du, YueJun Y; Reisinger, Eva E; Riediger, Anja Lisa AL; Volckmar, Anna-Lena AL; Stenzinger, Albrecht A; Schlesner, Matthias M; Jäger, Dirk D; Hohenfellner, Markus M; Duensing, Stefan S; Grüllich, Carsten C; Pahernik, Sascha S
Publication Date: 2017-09-26

Variant appearance in text: CDSN: M18L
PubMed Link: 29088767
Variant Present in the following documents:
  • oncotarget-08-74049-s002.xlsx, sheet 6
View BVdb publication page



Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

Nature Genetics
Ferreira, Manuel A MA; Vonk, Judith M JM; Baurecht, Hansjörg H; Marenholz, Ingo I; Tian, Chao C; Hoffman, Joshua D JD; Helmer, Quinta Q; Tillander, Annika A; Ullemar, Vilhelmina V; van Dongen, Jenny J; Lu, Yi Y; Rüschendorf, Franz F; Esparza-Gordillo, Jorge J; Medway, Chris W CW; Mountjoy, Edward E; Burrows, Kimberley K; Hummel, Oliver O; Grosche, Sarah S; Brumpton, Ben M BM; Witte, John S JS; Hottenga, Jouke-Jan JJ; Willemsen, Gonneke G; Zheng, Jie J; Rodríguez, Elke E; Hotze, Melanie M; Franke, Andre A; Revez, Joana A JA; Beesley, Jonathan J; Matheson, Melanie C MC; Dharmage, Shyamali C SC; Bain, Lisa M LM; Fritsche, Lars G LG; Gabrielsen, Maiken E ME; Balliu, Brunilda B; , ; , ; , ; , ; Nielsen, Jonas B JB; Zhou, Wei W; Hveem, Kristian K; Langhammer, Arnulf A; Holmen, Oddgeir L OL; Løset, Mari M; Abecasis, Gonçalo R GR; Willer, Cristen J CJ; Arnold, Andreas A; Homuth, Georg G; Schmidt, Carsten O CO; Thompson, Philip J PJ; Martin, Nicholas G NG; Duffy, David L DL; Novak, Natalija N; Schulz, Holger H; Karrasch, Stefan S; Gieger, Christian C; Strauch, Konstantin K; Melles, Ronald B RB; Hinds, David A DA; Hübner, Norbert N; Weidinger, Stephan S; Magnusson, Patrik K E PKE; Jansen, Rick R; Jorgenson, Eric E; Lee, Young-Ae YA; Boomsma, Dorret I DI; Almqvist, Catarina C; Karlsson, Robert R; Koppelman, Gerard H GH; Paternoster, Lavinia L
Publication Date: 2017-12

Variant appearance in text: rs3095318
PubMed Link: 29083406
Variant Present in the following documents:
  • NIHMS74439-supplement-Supplementary_note.pdf
View BVdb publication page



Identification of Four Novel Loci in Asthma in European American and African American Populations.

American Journal Of Respiratory And Critical Care Medicine
Almoguera, Berta B; Vazquez, Lyam L; Mentch, Frank F; Connolly, John J; Pacheco, Jennifer A JA; Sundaresan, Agnes S AS; Peissig, Peggy L PL; Linneman, James G JG; McCarty, Catherine A CA; Crosslin, David D; Carrell, David S DS; Lingren, Todd T; Namjou-Khales, Bahram B; Harley, John B JB; Larson, Eric E; Jarvik, Gail P GP; Brilliant, Murray M; Williams, Marc S MS; Kullo, Iftikhar J IJ; Hysinger, Erik B EB; Sleiman, Patrick M A PM; Hakonarson, Hakon H
Publication Date: 2017-02-15

Variant appearance in text: rs3095318
PubMed Link: 27611488
Variant Present in the following documents:
  • Main text
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: rs3095318
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.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: N/A
PubMed Link: 26206375
Variant Present in the following documents:
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: N/A
PubMed Link: 25773295
Variant Present in the following documents:
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: N/A
PubMed Link: 25390934
Variant Present in the following documents:
View BVdb publication page



Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

Nature Genetics
Buczkowicz, Pawel P; Hoeman, Christine C; Rakopoulos, Patricia P; Pajovic, Sanja S; Letourneau, Louis L; Dzamba, Misko M; Morrison, Andrew A; Lewis, Peter P; Bouffet, Eric E; Bartels, Ute U; Zuccaro, Jennifer J; Agnihotri, Sameer S; Ryall, Scott S; Barszczyk, Mark M; Chornenkyy, Yevgen Y; Bourgey, Mathieu M; Bourque, Guillaume G; Montpetit, Alexandre A; Cordero, Francisco F; Castelo-Branco, Pedro P; Mangerel, Joshua J; Tabori, Uri U; Ho, King Ching KC; Huang, Annie A; Taylor, Kathryn R KR; Mackay, Alan A; Bendel, Anne E AE; Nazarian, Javad J; Fangusaro, Jason R JR; Karajannis, Matthias A MA; Zagzag, David D; Foreman, Nicholas K NK; Donson, Andrew A; Hegert, Julia V JV; Smith, Amy A; Chan, Jennifer J; Lafay-Cousin, Lucy L; Dunn, Sandra S; Hukin, Juliette J; Dunham, Chris C; Scheinemann, Katrin K; Michaud, Jean J; Zelcer, Shayna S; Ramsay, David D; Cain, Jason J; Brennan, Cameron C; Souweidane, Mark M MM; Jones, Chris C; Allis, C David CD; Brudno, Michael M; Becher, Oren O; Hawkins, Cynthia C
Publication Date: 2014-05

Variant appearance in text: CDSN: M18L
PubMed Link: 24705254
Variant Present in the following documents:
  • NIHMS4215-supplement-10.xlsx, sheet 2
View BVdb publication page



Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene.

American Journal Of Human Genetics
Nair, Rajan P RP; Stuart, Philip E PE; Nistor, Ioana I; Hiremagalore, Ravi R; Chia, Nicholas V C NVC; Jenisch, Stefan S; Weichenthal, Michael M; Abecasis, Gonçalo R GR; Lim, Henry W HW; Christophers, Enno E; Voorhees, John J JJ; Elder, James T JT
Publication Date: 2006-05

Variant appearance in text: rs3095318
PubMed Link: 16642438
Variant Present in the following documents:
  • Main text
View BVdb publication page