RNASEL c.302T>C ;(p.I101T)

Variant ID: 1-182555640-A-G

NM_021133.3(RNASEL):c.302T>C;(p.I101T)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Differences between Well-Differentiated Neuroendocrine Tumors and Ductal Adenocarcinomas of the Pancreas Assessed by Multi-Omics Profiling.

International Journal Of Molecular Sciences
Starzyńska, Teresa T; Karczmarski, Jakub J; Paziewska, Agnieszka A; Kulecka, Maria M; Kuśnierz, Katarzyna K; Żeber-Lubecka, Natalia N; Ambrożkiewicz, Filip F; Mikula, Michał M; Kos-Kudła, Beata B; Ostrowski, Jerzy J
Publication Date: 2020-06-23

Variant appearance in text: RNASEL: I101T; rs115634589
PubMed Link: 32586046
Variant Present in the following documents:
  • ijms-21-04470-s001.xlsx, sheet 1
View BVdb publication page



Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.

Journal Of Medical Genetics
Song, Honglin H; Dicks, Ed M EM; Tyrer, Jonathan J; Intermaggio, Maria M; Chenevix-Trench, Georgia G; Bowtell, David D DD; Traficante, Nadia N; Group, Aocs A; Brenton, James J; Goranova, Teodora T; Hosking, Karen K; Piskorz, Anna A; van Oudenhove, Elke E; Doherty, Jen J; Harris, Holly R HR; Rossing, Mary Anne MA; Duerst, Matthias M; Dork, Thilo T; Bogdanova, Natalia V NV; Modugno, Francesmary F; Moysich, Kirsten K; Odunsi, Kunle K; Ness, Roberta R; Karlan, Beth Y BY; Lester, Jenny J; Jensen, Allan A; Krüger Kjaer, Susanne S; Høgdall, Estrid E; Campbell, Ian G IG; Lázaro, Conxi C; Pujara, Miguel Angel MA; Cunningham, Julie J; Vierkant, Robert R; Winham, Stacey J SJ; Hildebrandt, Michelle M; Huff, Chad C; Li, Donghui D; Wu, Xifeng X; Yu, Yao Y; Permuth, Jennifer B JB; Levine, Douglas A DA; Schildkraut, Joellen M JM; Riggan, Marjorie J MJ; Berchuck, Andrew A; Webb, Penelope M PM; Group, Opal Study OS; Cybulski, Cezary C; Gronwald, Jacek J; Jakubowska, Anna A; Lubinski, Jan J; Alsop, Jennifer J; Harrington, Patricia P; Chan, Isaac I; Menon, Usha U; Pearce, Celeste L CL; Wu, Anna H AH; de Fazio, Anna A; Kennedy, Catherine J CJ; Goode, Ellen E; Ramus, Susan S; Gayther, Simon S; Pharoah, Paul P
Publication Date: 2021-05

Variant appearance in text: RNASEL: I101T
PubMed Link: 32546565
Variant Present in the following documents:
  • jmedgenet-2019-106739supp001.xlsx, sheet 7
View BVdb publication page



The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.

Oncotarget
Muscat, Andrea M AM; Wong, Nicholas C NC; Drummond, Katharine J KJ; Algar, Elizabeth M EM; Khasraw, Mustafa M; Verhaak, Roel R; Field, Kathryn K; Rosenthal, Mark A MA; Ashley, David M DM
Publication Date: 2018-01-30

Variant appearance in text: RNASEL: 302T>C; Ile101Thr; rs115634589
PubMed Link: 29487696
Variant Present in the following documents:
  • oncotarget-09-7844-s003.xlsx, sheet 1
View BVdb publication page



Functional and Structural Consequences of Damaging Single Nucleotide Polymorphisms in Human Prostate Cancer Predisposition Gene RNASEL.

Biomed Research International
Datta, Amit A; Mazumder, Md Habibul Hasan MH; Chowdhury, Afrin Sultana AS; Hasan, Md Anayet MA
Publication Date: 2015

Variant appearance in text: rs115634589
PubMed Link: 26236721
Variant Present in the following documents:
  • Main text
  • BMRI2015-271458.pdf
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: RNASEL: I101T
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-7.xlsx, sheet 1
View BVdb publication page



Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Publication Date: 2013-03

Variant appearance in text: RNASEL: I101T; rs115634589
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s009.xlsx, sheet 1
View BVdb publication page