GC c.611T>C ;(p.L204P)

Variant ID: 4-72629215-A-G

NM_000583.3(GC):c.611T>C;(p.L204P)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: GC: 611T>C; L204P
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



The Notch1/CD22 signaling axis disrupts Treg cell function in SARS-CoV2-associated multisystem inflammatory syndrome in children.

The Journal Of Clinical Investigation
Benamar, Mehdi M; Chen, Qian Q; Chou, Janet J; Julé, Amélie M AM; Boudra, Rafik R; Contini, Paola P; Crestani, Elena E; Lai, Peggy S PS; Wang, Muyun M; Fong, Jason J; Rockwitz, Shira S; Lee, Pui Y PY; Chan, Tsz Man Fion TMF; Altun, Ekin Zeynep EZ; Kepenekli, Eda E; Karakoc-Aydiner, Elif E; Ozen, Ahmet A; Boran, Perran P; Aygun, Fatih F; Önal, Pınar P; Kilinc Sakalli, Ayse Ayzit AA; Cokugras, Haluk H; Gelmez, Metin Yusuf MY; Oktelik, Fatma B FB; Cetin Aktas, Esin E; Zhong, Yuelin Y; Taylor, Maria L ML; Irby, Katherine K; Halasa, Natasha B NB; Mack, Elizabeth H EH; Signa, Sara S; Prigione, Ignazia I; Gattorno, Marco M; Cotugno, Nicola N; Amodio, Donato D; Geha, Raif S RS; Son, Mary Beth MB; Newburger, Jane W JW; Agrawal, Pankaj B PB; Volpi, Stefano S; Palma, Paolo P; Kiykim, Ayca A; Randolph, Adrienne A; Deniz, Gunnur G; Baris, Safa S; De Palma, Raffaele R; Schmitz-Abe, Klaus K; Charbonnier, Louis-Marie LM; Henderson, Lauren A LA; Chatila, Talal A TA
Publication Date: 2022-10-25

Variant appearance in text: GC: L204P
PubMed Link: 36282598
Variant Present in the following documents:
  • jci-133-163235-s083.xlsx, sheet 1
View BVdb publication page



Molecular subclusters of follicular lymphoma: a report from the United Kingdom's Haematological Malignancy Research Network.

Blood Advances
Crouch, Simon S; Painter, Daniel D; Barrans, Sharon L SL; Roman, Eve E; Beer, Philip A PA; Cooke, Susanna L SL; Glover, Paul P; Van Hoppe, Suzan J L SJL; Webster, Nichola N; Lacy, Stuart E SE; Ruiz, Camilo C; Campbell, Peter J PJ; Hodson, Daniel J DJ; Patmore, Russell R; Burton, Cathy C; Smith, Alexandra A; Tooze, Reuben M RM
Publication Date: 2022-11-08

Variant appearance in text: GC: L204P
PubMed Link: 35363872
Variant Present in the following documents:
  • BLOODA_ADV-2021-005284-mmc1.xlsx, sheet 2
View BVdb publication page



Genomic characterization between strains selected for death-feigning duration for avoiding attack of a beetle.

Scientific Reports
Tanaka, Keisuke K; Sasaki, Ken K; Matsumura, Kentarou K; Yajima, Shunsuke S; Miyatake, Takahisa T
Publication Date: 2021-11-08

Variant appearance in text: GC: 611T>C
PubMed Link: 34750398
Variant Present in the following documents:
  • 41598_2021_987_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Identification of biomarkers complementary to homologous recombination deficiency for improving the clinical outcome of ovarian serous cystadenocarcinoma.

Clinical And Translational Medicine
Shi, Zhiwen Z; Zhao, Qingguo Q; Lv, Bin B; Qu, Xinyu X; Han, Xiao X; Wang, Hongyan H; Qiu, Junjun J; Hua, Keqin K
Publication Date: 2021-05

Variant appearance in text: GC: 611T>C
PubMed Link: 34047476
Variant Present in the following documents:
  • CTM2-11-e399-s003.xls, sheet 1
View BVdb publication page



Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Nature Communications
Bakouny, Ziad Z; Braun, David A DA; Shukla, Sachet A SA; Pan, Wenting W; Gao, Xin X; Hou, Yue Y; Flaifel, Abdallah A; Tang, Stephen S; Bosma-Moody, Alice A; He, Meng Xiao MX; Vokes, Natalie N; Nyman, Jackson J; Xie, Wanling W; Nassar, Amin H AH; Abou Alaiwi, Sarah S; Flippot, Ronan R; Bouchard, Gabrielle G; Steinharter, John A JA; Nuzzo, Pier Vitale PV; Ficial, Miriam M; Sant'Angelo, Miriam M; Forman, Juliet J; Berchuck, Jacob E JE; Dudani, Shaan S; Bi, Kevin K; Park, Jihye J; Camp, Sabrina S; Sticco-Ivins, Maura M; Hirsch, Laure L; Baca, Sylvan C SC; Wind-Rotolo, Megan M; Ross-Macdonald, Petra P; Sun, Maxine M; Lee, Gwo-Shu Mary GM; Chang, Steven L SL; Wei, Xiao X XX; McGregor, Bradley A BA; Harshman, Lauren C LC; Genovese, Giannicola G; Ellis, Leigh L; Pomerantz, Mark M; Hirsch, Michelle S MS; Freedman, Matthew L ML; Atkins, Michael B MB; Wu, Catherine J CJ; Ho, Thai H TH; Linehan, W Marston WM; McDermott, David F DF; Heng, Daniel Y C DYC; Viswanathan, Srinivas R SR; Signoretti, Sabina S; Van Allen, Eliezer M EM; Choueiri, Toni K TK
Publication Date: 2021-02-05

Variant appearance in text: GC: 611T>C; L204P
PubMed Link: 33547292
Variant Present in the following documents:
  • 41467_2021_21068_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



The mutational landscape of human olfactory G protein-coupled receptors.

Bmc Biology
Jimenez, Ramón Cierco RC; Casajuana-Martin, Nil N; García-Recio, Adrián A; Alcántara, Lidia L; Pardo, Leonardo L; Campillo, Mercedes M; Gonzalez, Angel A
Publication Date: 2021-02-05

Variant appearance in text: GC: 611T>C
PubMed Link: 33546694
Variant Present in the following documents:
  • 12915_2021_962_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells
Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC
Publication Date: 2020-10-31

Variant appearance in text: GC: 611T>C; Leu204Pro
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



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: GC: 611T>C
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Evolutionary Changes after Translational Challenges Imposed by Horizontal Gene Transfer.

Genome Biology And Evolution
Bedhomme, Stéphanie S; Amorós-Moya, Dolors D; Valero, Luz M LM; Bonifaci, Nùria N; Pujana, Miquel-Àngel MÀ; Bravo, Ignacio G IG
Publication Date: 2019-03-01

Variant appearance in text: GC: L204P
PubMed Link: 30753446
Variant Present in the following documents:
  • Main text
  • evz031.pdf
View BVdb publication page



Human gastric cancer modelling using organoids.

Gut
Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE
Publication Date: 2019-02

Variant appearance in text: GC: Leu204Pro
PubMed Link: 29703791
Variant Present in the following documents:
  • gutjnl-2017-314549supp010.xlsx, sheet 3
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: GC: 611T>C; L204P
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

Journal Of Medical Genetics
Decker, Brennan B; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Ahmed, Shahana S; Baynes, Caroline C; Conroy, Don M DM; Brown, Judith J; Luben, Robert R; Ostrander, Elaine A EA; Pharoah, Paul Dp PD; Dunning, Alison M AM; Easton, Douglas F DF
Publication Date: 2017-11

Variant appearance in text: GC: 611T>C; Leu204Pro
PubMed Link: 28779002
Variant Present in the following documents:
  • jmedgenet-2017-104588supp005.pdf
View BVdb publication page



Landscape of genomic diversity and host adaptation in Fusarium graminearum.

Bmc Genomics
Laurent, Benoit B; Moinard, Magalie M; Spataro, Cathy C; Ponts, Nadia N; Barreau, Christian C; Foulongne-Oriol, Marie M
Publication Date: 2017-02-23

Variant appearance in text: GC: 611T>C
PubMed Link: 28231761
Variant Present in the following documents:
  • 12864_2017_3524_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page