KIT c.1621A>G ;(p.M541V)

Variant ID: 4-55593464-A-G

NM_000222.2(KIT):c.1621A>G;(p.M541V)

This variant was identified in 19 publications

View GRCh38 version.




Publications:


Genomic Landscape Alterations in Primary Tumor and Matched Lymph Node Metastasis in Hormone-Naïve Prostate Cancer Patients.

Cancers
Russo, Giorgio Ivan GI; Bonacci, Paolo P; Bivona, Dalida D; Privitera, Grete Francesca GF; Broggi, Giuseppe G; Caltabiano, Rosario R; Vella, Jessica J; Lo Giudice, Arturo A; Asmundo, Maria Giovanna MG; Cimino, Sebastiano S; Morgia, Giuseppe G; Stefani, Stefania S; Musso, Nicolò N
Publication Date: 2022-08-30

Variant appearance in text: rs3822214
PubMed Link: 36077746
Variant Present in the following documents:
  • cancers-14-04212.pdf
View BVdb publication page



Next-Generation Sequencing in Lung Cancer Patients: A Comparative Approach in NSCLC and SCLC Mutational Landscapes.

Journal Of Personalized Medicine
Pop-Bica, Cecilia C; Ciocan, Cristina Alexandra CA; Braicu, Cornelia C; Haranguș, Antonia A; Simon, Marioara M; Nutu, Andreea A; Pop, Laura Ancuta LA; Slaby, Ondrej O; Atanasov, Atanas G AG; Pirlog, Radu R; Al Hajjar, Nadim N; Berindan-Neagoe, Ioana I
Publication Date: 2022-03-13

Variant appearance in text: rs3822214
PubMed Link: 35330454
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of IGF2 in the Study of Development and Evolution of Prostate Cancer.

Frontiers In Genetics
Porras-Quesada, P P; González-Cabezuelo, J M JM; Sánchez-Conde, V V; Puche-Sanz, I I; Arenas-Rodríguez, V V; García-López, C C; Flores-Martín, J F JF; Molina-Hernández, J M JM; Álvarez-Cubero, M J MJ; Martínez-González, L J LJ; Vázquez-Alonso, F F
Publication Date: 2021

Variant appearance in text: rs3822214
PubMed Link: 35095996
Variant Present in the following documents:
  • Main text
  • fgene-12-740641.pdf
View BVdb publication page



Proteogenomics of non-small cell lung cancer reveals molecular subtypes associated with specific therapeutic targets and immune evasion mechanisms.

Nature Cancer
Lehtiö, Janne J; Arslan, Taner T; Siavelis, Ioannis I; Pan, Yanbo Y; Socciarelli, Fabio F; Berkovska, Olena O; Umer, Husen M HM; Mermelekas, Georgios G; Pirmoradian, Mohammad M; Jönsson, Mats M; Brunnström, Hans H; Brustugun, Odd Terje OT; Purohit, Krishna Pinganksha KP; Cunningham, Richard R; Foroughi Asl, Hassan H; Isaksson, Sofi S; Arbajian, Elsa E; Aine, Mattias M; Karlsson, Anna A; Kotevska, Marija M; Gram Hansen, Carsten C; Drageset Haakensen, Vilde V; Helland, Åslaug Å; Tamborero, David D; Johansson, Henrik J HJ; Branca, Rui M RM; Planck, Maria M; Staaf, Johan J; Orre, Lukas M LM
Publication Date: 2021-11

Variant appearance in text: KIT: 1621A>G
PubMed Link: 34870237
Variant Present in the following documents:
  • EMS133264-supplement-Supplementary_Tables.xlsx, sheet 9
View BVdb publication page



Higher Mutation Burden in High Proliferation Compartments of Heterogeneous Melanoma Tumors.

International Journal Of Molecular Sciences
Grzywa, Tomasz M TM; Koppolu, Agnieszka A AA; Paskal, Wiktor W; Klicka, Klaudia K; Rydzanicz, Małgorzata M; Wejman, Jarosław J; Płoski, Rafał R; Włodarski, Paweł K PK
Publication Date: 2021-04-09

Variant appearance in text: KIT: 1621A>G; Met541Val
PubMed Link: 33918692
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine
Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ
Publication Date: 2020-10-27

Variant appearance in text: KIT: M541V
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Development of an AmpliSeqTM Panel for Next-Generation Sequencing of a Set of Genetic Predictors of Persisting Pain.

Frontiers In Pharmacology
Kringel, Dario D; Kaunisto, Mari A MA; Lippmann, Catharina C; Kalso, Eija E; Lötsch, Jörn J
Publication Date: 2018

Variant appearance in text: rs3822214
PubMed Link: 30283335
Variant Present in the following documents:
  • Main text
  • fphar-09-01008.pdf
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs3822214
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: rs3822214
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s7.xlsx, sheet 3
View BVdb publication page



A candidate gene identification strategy utilizing mouse to human big-data mining: "3R-tenet" in COPD genetic research.

Respiratory Research
Vishweswaraiah, Sangeetha S; George, Leema L; Purushothaman, Natarajan N; Ganguly, Koustav K
Publication Date: 2018-06-06

Variant appearance in text: rs3822214
PubMed Link: 29871630
Variant Present in the following documents:
  • Main text
  • 12931_2018_Article_795.pdf
View BVdb publication page



Germline mutation in the TP53 gene in uveal melanoma.

Scientific Reports
Hajkova, Nikola N; Hojny, Jan J; Nemejcova, Kristyna K; Dundr, Pavel P; Ulrych, Jan J; Jirsova, Katerina K; Glezgova, Johana J; Ticha, Ivana I
Publication Date: 2018-05-16

Variant appearance in text: rs3822214
PubMed Link: 29769598
Variant Present in the following documents:
  • 41598_2018_26040_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications
Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F
Publication Date: 2016-08-18

Variant appearance in text: rs3822214
PubMed Link: 27534895
Variant Present in the following documents:
  • ncomms12475-s3.xlsx, sheet 1
  • ncomms12475-s2.xlsx, sheet 1
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: rs3822214
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: KIT: M541V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One
Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M
Publication Date: 2015

Variant appearance in text: rs3822214
PubMed Link: 26010451
Variant Present in the following documents:
  • pone.0127146.s014.xlsx, sheet 4
  • pone.0127146.s014.xlsx, sheet 3
  • pone.0127146.s014.xlsx, sheet 1
View BVdb publication page



XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015

Variant appearance in text: rs3822214
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 10
  • pone.0123569.s008.xls, sheet 2
  • pone.0123569.s008.xls, sheet 1
  • pone.0123569.s008.xls, sheet 11
  • pone.0123569.s008.xls, sheet 5
  • pone.0123569.s008.xls, sheet 6
View BVdb publication page



Dissecting Genomic Aberrations in Myeloproliferative Neoplasms by Multiplex-PCR and Next Generation Sequencing.

Plos One
Kirschner, Martin M J MM; Schemionek, Mirle M; Schubert, Claudia C; Chatain, Nicolas N; Sontag, Stephanie S; Isfort, Susanne S; Ortiz-Brüchle, Nadina N; Schmitt, Karla K; Krüger, Luisa L; Zerres, Klaus K; Zenke, Martin M; Brümmendorf, Tim H TH; Koschmieder, Steffen S
Publication Date: 2015

Variant appearance in text: rs3822214
PubMed Link: 25894969
Variant Present in the following documents:
  • Main text
  • pone.0123476.pdf
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: rs3822214
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, sheet 1
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: rs3822214
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
  • pone.0094554.s002.xlsx, sheet 3
View BVdb publication page