SSBP4 c.229A>C ;(p.R77=)

Variant ID: 19-18538742-A-C

NM_032627.4(SSBP4):c.229A>C;(p.R77=)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.

Nature Communications
Feofanova, Elena V EV; Brown, Michael R MR; Alkis, Taryn T; Manuel, Astrid M AM; Li, Xihao X; Tahir, Usman A UA; Li, Zilin Z; Mendez, Kevin M KM; Kelly, Rachel S RS; Qi, Qibin Q; Chen, Han H; Larson, Martin G MG; Lemaitre, Rozenn N RN; Morrison, Alanna C AC; Grieser, Charles C; Wong, Kari E KE; Gersztern, Robert E RE; Zhao, Zhongming Z; Lasky-Su, Jessica J; , ; Yu, Bing B
Publication Date: 2023-05-30

Variant appearance in text: rs10405636
PubMed Link: 37253714
Variant Present in the following documents:
  • Main text
  • 41467_2023_Article_38800.pdf
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: SSBP4: 229A>C; Arg77Arg; rs10405636
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs10405636
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: SSBP4: R77R; rs10405636
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
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: SSBP4: R77R; rs10405636
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Allele-specific miRNA-binding analysis identifies candidate target genes for breast cancer risk.

Npj Genomic Medicine
Jacinta-Fernandes, Ana A; Xavier, Joana M JM; Magno, Ramiro R; Lage, Joel G JG; Maia, Ana-Teresa AT
Publication Date: 2020

Variant appearance in text: rs10405636
PubMed Link: 32128252
Variant Present in the following documents:
  • 41525_2019_112_MOESM1_ESM.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: SSBP4: R77R; rs10405636
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: SSBP4: 229A>C
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_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: SSBP4: 229A>C; rs10405636
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



A Comprehensive cis-eQTL Analysis Revealed Target Genes in Breast Cancer Susceptibility Loci Identified in Genome-wide Association Studies.

American Journal Of Human Genetics
Guo, Xingyi X; Lin, Weiqiang W; Bao, Jiandong J; Cai, Qiuyin Q; Pan, Xiao X; Bai, Mengqiu M; Yuan, Yuan Y; Shi, Jiajun J; Sun, Yaqiong Y; Han, Mi-Ryung MR; Wang, Jing J; Liu, Qi Q; Wen, Wanqing W; Li, Bingshan B; Long, Jirong J; Chen, Jianghua J; Zheng, Wei W
Publication Date: 2018-05-03

Variant appearance in text: rs10405636
PubMed Link: 29727689
Variant Present in the following documents:
  • Main text
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: SSBP4: R77R; rs10405636
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
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: SSBP4: R77R; rs10405636
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: SSBP4: R77R; rs10405636
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: SSBP4: R77R; rs10405636
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors.

International Journal Of Cancer
Rudolph, Anja A; Milne, Roger L RL; Truong, Thérèse T; Knight, Julia A JA; Seibold, Petra P; Flesch-Janys, Dieter D; Behrens, Sabine S; Eilber, Ursula U; Bolla, Manjeet K MK; Wang, Qin Q; Dennis, Joe J; Dunning, Alison M AM; Shah, Mitul M; Munday, Hannah R HR; Darabi, Hatef H; Eriksson, Mikael M; Brand, Judith S JS; Olson, Janet J; Vachon, Celine M CM; Hallberg, Emily E; Castelao, J Esteban JE; Carracedo, Angel A; Torres, Maria M; Li, Jingmei J; Humphreys, Keith K; Cordina-Duverger, Emilie E; Menegaux, Florence F; Flyger, Henrik H; Nordestgaard, Børge G BG; Nielsen, Sune F SF; Yesilyurt, Betul T BT; Floris, Giuseppe G; Leunen, Karin K; Engelhardt, Ellen G EG; Broeks, Annegien A; Rutgers, Emiel J EJ; Glendon, Gord G; Mulligan, Anna Marie AM; Cross, Simon S; Reed, Malcolm M; Gonzalez-Neira, Anna A; Arias Perez, José Ignacio JI; Provenzano, Elena E; Apicella, Carmel C; Southey, Melissa C MC; Spurdle, Amanda A; , ; , ; Häberle, Lothar L; Beckmann, Matthias W MW; Ekici, Arif B AB; Dieffenbach, Aida Karina AK; Arndt, Volker V; Stegmaier, Christa C; McLean, Catriona C; Baglietto, Laura L; Chanock, Stephen J SJ; Lissowska, Jolanta J; Sherman, Mark E ME; Brüning, Thomas T; Hamann, Ute U; Ko, Yon-Dschun YD; Orr, Nick N; Schoemaker, Minouk M; Ashworth, Alan A; Kosma, Veli-Matti VM; Kataja, Vesa V; Hartikainen, Jaana M JM; Mannermaa, Arto A; Swerdlow, Anthony A; , ; Giles, Graham G GG; Brenner, Hermann H; Fasching, Peter A PA; Chenevix-Trench, Georgia G; Hopper, John J; Benítez, Javier J; Cox, Angela A; Andrulis, Irene L IL; Lambrechts, Diether D; Gago-Dominguez, Manuela M; Couch, Fergus F; Czene, Kamila K; Bojesen, Stig E SE; Easton, Doug F DF; Schmidt, Marjanka K MK; Guénel, Pascal P; Hall, Per P; Pharoah, Paul D P PD; Garcia-Closas, Montserrat M; Chang-Claude, Jenny J
Publication Date: 2015-03-15

Variant appearance in text: rs10405636
PubMed Link: 25227710
Variant Present in the following documents:
  • Main text
View BVdb publication page