SRSF2 c.-161C>G

Variant ID: 17-74733403-G-C

NM_001195427.1(SRSF2):c.-161C>G

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Proteogenomic characterization of MiT family translocation renal cell carcinoma.

Nature Communications
Qu, Yuanyuan Y; Wu, Xiaohui X; Anwaier, Aihetaimujiang A; Feng, Jinwen J; Xu, Wenhao W; Pei, Xiaoru X; Zhu, Yu Y; Liu, Yang Y; Bai, Lin L; Yang, Guojian G; Tian, Xi X; Su, Jiaqi J; Shi, Guo-Hai GH; Cao, Da-Long DL; Xu, Fujiang F; Wang, Yue Y; Gan, Hua-Lei HL; Ni, Shujuan S; Sun, Meng-Hong MH; Zhao, Jian-Yuan JY; Zhang, Hailiang H; Ye, Dingwei D; Ding, Chen C
Publication Date: 2022-12-05

Variant appearance in text: rs3744061
PubMed Link: 36470859
Variant Present in the following documents:
  • 41467_2022_34460_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



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: rs3744061
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



The functional insight into the genetics of cardiovascular disease: results from the post-GWAS study.

Vavilovskii Zhurnal Genetiki I Selektsii
Bryzgalov, L O LO; Korbolina, E E EE; Damarov, I S IS; Merkulova, T I TI
Publication Date: 2022-02

Variant appearance in text: rs3744061
PubMed Link: 35342858
Variant Present in the following documents:
  • Main text
  • VJGB-26-2210.pdf
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs3744061
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics
Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM
Publication Date: 2020-11-30

Variant appearance in text: rs3744061
PubMed Link: 33256598
Variant Present in the following documents:
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Association Study of Puberty-Related Candidate Genes in Chinese Female Population.

International Journal Of Genomics
Omariba, Gideon G; Xiao, Junhua J
Publication Date: 2020

Variant appearance in text: rs3744061
PubMed Link: 32566640
Variant Present in the following documents:
  • Main text
  • IJG2020-1426761.pdf
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs3744061
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs3744061
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.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: rs3744061
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



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs3744061
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs3744061
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Genetic loci for retinal arteriolar microcirculation.

Plos One
Sim, Xueling X; Jensen, Richard A RA; Ikram, M Kamran MK; Cotch, Mary Frances MF; Li, Xiaohui X; MacGregor, Stuart S; Xie, Jing J; Smith, Albert Vernon AV; Boerwinkle, Eric E; Mitchell, Paul P; Klein, Ronald R; Klein, Barbara E K BE; Glazer, Nicole L NL; Lumley, Thomas T; McKnight, Barbara B; Psaty, Bruce M BM; de Jong, Paulus T V M PT; Hofman, Albert A; Rivadeneira, Fernando F; Uitterlinden, Andre G AG; van Duijn, Cornelia M CM; Aspelund, Thor T; Eiriksdottir, Gudny G; Harris, Tamara B TB; Jonasson, Fridbert F; Launer, Lenore J LJ; , ; Attia, John J; Baird, Paul N PN; Harrap, Stephen S; Holliday, Elizabeth G EG; Inouye, Michael M; Rochtchina, Elena E; Scott, Rodney J RJ; Viswanathan, Ananth A; , ; Li, Guo G; Smith, Nicholas L NL; Wiggins, Kerri L KL; Kuo, Jane Z JZ; Taylor, Kent D KD; Hewitt, Alex W AW; Martin, Nicholas G NG; Montgomery, Grant W GW; Sun, Cong C; Young, Terri L TL; Mackey, David A DA; van Zuydam, Natalie R NR; Doney, Alex S F AS; Palmer, Colin N A CN; Morris, Andrew D AD; Rotter, Jerome I JI; Tai, E Shyong ES; Gudnason, Vilmundur V; Vingerling, Johannes R JR; Siscovick, David S DS; Wang, Jie Jin JJ; Wong, Tien Y TY
Publication Date: 2013

Variant appearance in text: rs3744061
PubMed Link: 23776548
Variant Present in the following documents:
  • Main text
  • pone.0065804.pdf
View BVdb publication page