RNASEL c.195C>A ;(p.N65K)

Variant ID: 1-182555747-G-T

NM_021133.3(RNASEL):c.195C>A;(p.N65K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-13

Variant appearance in text: RNASEL: 195C>A; N65K; rs113469614
PubMed Link: 30545397
Variant Present in the following documents:
  • 13045_2018_679_MOESM2_ESM.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: rs113469614
PubMed Link: 26236721
Variant Present in the following documents:
  • Main text
  • BMRI2015-271458.pdf
View BVdb publication page