SMNDC1 c.*309G>A

Variant ID: 10-112053599-C-T

NM_005871.3(SMNDC1):c.*309G>A

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: rs1050755
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: rs1050755
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs1050755
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs1050755
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Transcriptome-wide analysis of UTRs in non-small cell lung cancer reveals cancer-related genes with SNV-induced changes on RNA secondary structure and miRNA target sites.

Plos One
Sabarinathan, Radhakrishnan R; Wenzel, Anne A; Novotny, Peter P; Tang, Xiaojia X; Kalari, Krishna R KR; Gorodkin, Jan J
Publication Date: 2014

Variant appearance in text: rs1050755
PubMed Link: 24416147
Variant Present in the following documents:
  • Main text
  • pone.0082699.s008.xlsx, sheet 1
  • pone.0082699.pdf
View BVdb publication page



Evidence for positive selection on a number of MicroRNA regulatory interactions during recent human evolution.

Plos Genetics
Li, Jingjing J; Liu, Yu Y; Xin, Xiaofeng X; Kim, Taehyung Simon TS; Cabeza, Eduardo Aguiar EA; Ren, Jie J; Nielsen, Rasmus R; Wrana, Jeffrey L JL; Zhang, Zhaolei Z
Publication Date: 2012

Variant appearance in text: rs1050755
PubMed Link: 22457636
Variant Present in the following documents:
  • Main text
  • pgen.1002578.pdf
View BVdb publication page



A genome-wide scan for genes involved in primary vesicoureteric reflux.

Journal Of Medical Genetics
Kelly, H H; Molony, C M CM; Darlow, J M JM; Pirker, M E ME; Yoneda, A A; Green, A J AJ; Puri, P P; Barton, D E DE
Publication Date: 2007-11

Variant appearance in text: rs1050755
PubMed Link: 17660461
Variant Present in the following documents:
  • Main text
View BVdb publication page