SMPD2 c.795G>A ;(p.R265=)

Variant ID: 6-109764535-G-A

NM_003080.2(SMPD2):c.795G>A;(p.R265=)

This variant was identified in 10 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: rs1476387
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: SMPD2: R265R
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs1476387
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
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: rs1476387
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
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: rs1476387
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs1476387
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Network-based analysis of the sphingolipid metabolism in hypertension.

Frontiers In Genetics
Fenger, Mogens M; Linneberg, Allan A; Jeppesen, Jørgen J
Publication Date: 2015

Variant appearance in text: rs1476387
PubMed Link: 25788903
Variant Present in the following documents:
  • Main text
  • fgene-06-00084.pdf
View BVdb publication page



Genetic variants in fas signaling pathway genes and risk of gastric cancer.

International Journal Of Cancer
Hyland, Paula L PL; Lin, Shih-Wen SW; Hu, Nan N; Zhang, Han H; Wang, Lemin L; Su, Hua H; Wang, Chaoyu C; Ding, Ti T; Tang, Ze-Zhong ZZ; Fan, Jin-Hu JH; Qiao, You-Lin YL; Xiong, Xiaoqin X; Wheeler, William W; Giffen, Carol C; Yu, Kai K; Yuenger, Jeff J; Burdett, Laurie L; Wang, Zhaoming Z; Chanock, Stephen J SJ; Tucker, Margaret A MA; Dawsey, Sanford M SM; Freedman, Neal D ND; Goldstein, Alisa M AM; Abnet, Christian C CC; Taylor, Philip R PR
Publication Date: 2014-02-15

Variant appearance in text: rs1476387
PubMed Link: 23921907
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs1476387
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.

American Journal Of Human Genetics
Lanktree, Matthew B MB; Guo, Yiran Y; Murtaza, Muhammed M; Glessner, Joseph T JT; Bailey, Swneke D SD; Onland-Moret, N Charlotte NC; Lettre, Guillaume G; Ongen, Halit H; Rajagopalan, Ramakrishnan R; Johnson, Toby T; Shen, Haiqing H; Nelson, Christopher P CP; Klopp, Norman N; Baumert, Jens J; Padmanabhan, Sandosh S; Pankratz, Nathan N; Pankow, James S JS; Shah, Sonia S; Taylor, Kira K; Barnard, John J; Peters, Bas J BJ; Maloney, Cliona M CM; Lobmeyer, Maximilian T MT; Stanton, Alice A; Zafarmand, M Hadi MH; Romaine, Simon P R SP; Mehta, Amar A; van Iperen, Erik P A EP; Gong, Yan Y; Price, Tom S TS; Smith, Erin N EN; Kim, Cecilia E CE; Li, Yun R YR; Asselbergs, Folkert W FW; Atwood, Larry D LD; Bailey, Kristian M KM; Bhatt, Deepak D; Bauer, Florianne F; Behr, Elijah R ER; Bhangale, Tushar T; Boer, Jolanda M A JM; Boehm, Bernhard O BO; Bradfield, Jonathan P JP; Brown, Morris M; Braund, Peter S PS; Burton, Paul R PR; Carty, Cara C; Chandrupatla, Hareesh R HR; Chen, Wei W; Connell, John J; Dalgeorgou, Chrysoula C; Boer, Anthonius de Ad; Drenos, Fotios F; Elbers, Clara C CC; Fang, James C JC; Fox, Caroline S CS; Frackelton, Edward C EC; Fuchs, Barry B; Furlong, Clement E CE; Gibson, Quince Q; Gieger, Christian C; Goel, Anuj A; Grobbee, Diederik E DE; Hastie, Claire C; Howard, Philip J PJ; Huang, Guan-Hua GH; Johnson, W Craig WC; Li, Qing Q; Kleber, Marcus E ME; Klein, Barbara E K BE; Klein, Ronald R; Kooperberg, Charles C; Ky, Bonnie B; Lacroix, Andrea A; Lanken, Paul P; Lathrop, Mark M; Li, Mingyao M; Marshall, Vanessa V; Melander, Olle O; Mentch, Frank D FD; Meyer, Nuala J NJ; Monda, Keri L KL; Montpetit, Alexandre A; Murugesan, Gurunathan G; Nakayama, Karen K; Nondahl, Dave D; Onipinla, Abiodun A; Rafelt, Suzanne S; Newhouse, Stephen J SJ; Otieno, F George FG; Patel, Sanjey R SR; Putt, Mary E ME; Rodriguez, Santiago S; Safa, Radwan N RN; Sawyer, Douglas B DB; Schreiner, Pamela J PJ; Simpson, Claire C; Sivapalaratnam, Suthesh S; Srinivasan, Sathanur R SR; Suver, Christine C; Swergold, Gary G; Sweitzer, Nancy K NK; Thomas, Kelly A KA; Thorand, Barbara B; Timpson, Nicholas J NJ; Tischfield, Sam S; Tobin, Martin M; Tomaszewski, Maciej M; Tomaszweski, Maciej M; Verschuren, W M Monique WM; Wallace, Chris C; Winkelmann, Bernhard B; Zhang, Haitao H; Zheng, Dongling D; Zhang, Li L; Zmuda, Joseph M JM; Clarke, Robert R; Balmforth, Anthony J AJ; Danesh, John J; Day, Ian N IN; Schork, Nicholas J NJ; de Bakker, Paul I W PI; Delles, Christian C; Duggan, David D; Hingorani, Aroon D AD; Hirschhorn, Joel N JN; Hofker, Marten H MH; Humphries, Steve E SE; Kivimaki, Mika M; Lawlor, Debbie A DA; Kottke-Marchant, Kandice K; Mega, Jessica L JL; Mitchell, Braxton D BD; Morrow, David A DA; Palmen, Jutta J; Redline, Susan S; Shields, Denis C DC; Shuldiner, Alan R AR; Sleiman, Patrick M PM; Smith, George Davey GD; Farrall, Martin M; Jamshidi, Yalda Y; Christiani, David C DC; Casas, Juan P JP; Hall, Alistair S AS; Doevendans, Pieter A PA; Christie, Jason D JD; Berenson, Gerald S GS; Murray, Sarah S SS; Illig, Thomas T; Dorn, Gerald W GW; Cappola, Thomas P TP; Boerwinkle, Eric E; Sever, Peter P; Rader, Daniel J DJ; Reilly, Muredach P MP; Caulfield, Mark M; Talmud, Philippa J PJ; Topol, Eric E; Engert, James C JC; Wang, Kai K; Dominiczak, Anna A; Hamsten, Anders A; Curtis, Sean P SP; Silverstein, Roy L RL; Lange, Leslie A LA; Sabatine, Marc S MS; Trip, Mieke M; Saleheen, Danish D; Peden, John F JF; Cruickshanks, Karen J KJ; März, Winfried W; O'Connell, Jeffrey R JR; Klungel, Olaf H OH; Wijmenga, Cisca C; Maitland-van der Zee, Anke Hilse AH; Schadt, Eric E EE; Johnson, Julie A JA; Jarvik, Gail P GP; Papanicolaou, George J GJ; , ; Grant, Struan F A SF; Munroe, Patricia B PB; North, Kari E KE; Samani, Nilesh J NJ; Koenig, Wolfgang W; Gaunt, Tom R TR; Anand, Sonia S SS; van der Schouw, Yvonne T YT; , ; Soranzo, Nicole N; Fitzgerald, Garret A GA; Reiner, Alex A; Hegele, Robert A RA; Hakonarson, Hakon H; Keating, Brendan J BJ
Publication Date: 2011-01-07

Variant appearance in text: rs1476387
PubMed Link: 21194676
Variant Present in the following documents:
  • Main text
View BVdb publication page