ALK c.3257C>T ;(p.S1086L)

Variant ID: 2-29446310-G-A

NM_004304.4(ALK):c.3257C>T;(p.S1086L)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: ALK: S1086L; rs138589984
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: ALK: S1086L
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: ALK: S1086L
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Detection of circulating tumor DNA without a tumor-informed search using next-generation sequencing is a prognostic biomarker in pancreatic ductal adenocarcinoma.

Neoplasia (New York, N.Y.)
Affolter, Kajsa E KE; Hellwig, Sabine S; Nix, David A DA; Bronner, Mary P MP; Thomas, Alun A; Fuertes, Carrie L CL; Hamil, Cindy L CL; Garrido-Laguna, Ignacio I; Scaife, Courtney L CL; Mulvihill, Sean J SJ; Underhill, Hunter R HR
Publication Date: 2021-09

Variant appearance in text: ALK: 3257C>T; S1086L
PubMed Link: 34298235
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: ALK: S1086L
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Structure and energy based quantitative missense variant effect analysis provides insights into drug resistance mechanisms of anaplastic lymphoma kinase mutations.

Scientific Reports
Li, Jianzong J; Huang, Yue Y; Wu, Miaomiao M; Wu, Chuanfang C; Li, Xin X; Bao, Jinku J
Publication Date: 2018-07-13

Variant appearance in text: ALK: S1086L
PubMed Link: 30006516
Variant Present in the following documents:
  • 41598_2018_28752_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs138589984
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.

Plos One
He, Karen Y KY; Zhao, Yiqing Y; McPherson, Elizabeth W EW; Li, Quan Q; Xia, Fan F; Weng, Chunhua C; Wang, Kai K; He, Max M MM
Publication Date: 2016

Variant appearance in text: ALK: S1086L; rs138589984
PubMed Link: 27930734
Variant Present in the following documents:
  • pone.0167847.s002.xls, sheet 1
View BVdb publication page



Integrating in silico prediction methods, molecular docking, and molecular dynamics simulation to predict the impact of ALK missense mutations in structural perspective.

Biomed Research International
Doss, C George Priya CG; Chakraborty, Chiranjib C; Chen, Luonan L; Zhu, Hailong H
Publication Date: 2014

Variant appearance in text: ALK: S1086L; rs138589984
PubMed Link: 25054154
Variant Present in the following documents:
View BVdb publication page