RFWD3 c.1212G>A ;(p.T404=)

Variant ID: 16-74670458-C-T

NM_018124.3(RFWD3):c.1212G>A;(p.T404=)

This variant was identified in 25 publications

View GRCh38 version.




Publications:


Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15

Variant appearance in text: RFWD3: 1212G>A; Thr404=
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.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: RFWD3: T404T
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
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: RFWD3: T404T; rs4888262
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: RFWD3: 1212G>A; T404T; rs4888262
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.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: RFWD3: Thr404Thr; rs4888262
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: RFWD3: T404T; rs4888262
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_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs4888262
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_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: RFWD3: 1212G>A; rs4888262
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: RFWD3: T404T; rs4888262
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: rs4888262
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor.

Nature Genetics
Wang, Zhaoming Z; McGlynn, Katherine A KA; Rajpert-De Meyts, Ewa E; Bishop, D Timothy DT; Chung, Charles C CC; Dalgaard, Marlene D MD; Greene, Mark H MH; Gupta, Ramneek R; Grotmol, Tom T; Haugen, Trine B TB; Karlsson, Robert R; Litchfield, Kevin K; Mitra, Nandita N; Nielsen, Kasper K; Pyle, Louise C LC; Schwartz, Stephen M SM; Thorsson, Vésteinn V; Vardhanabhuti, Saran S; Wiklund, Fredrik F; Turnbull, Clare C; Chanock, Stephen J SJ; Kanetsky, Peter A PA; Nathanson, Katherine L KL; ,
Publication Date: 2017-07

Variant appearance in text: rs4888262
PubMed Link: 28604732
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.

Nature Genetics
Litchfield, Kevin K; Levy, Max M; Orlando, Giulia G; Loveday, Chey C; Law, Philip J PJ; Migliorini, Gabriele G; Holroyd, Amy A; Broderick, Peter P; Karlsson, Robert R; Haugen, Trine B TB; Kristiansen, Wenche W; Nsengimana, Jérémie J; Fenwick, Kerry K; Assiotis, Ioannis I; Kote-Jarai, ZSofia Z; Dunning, Alison M AM; Muir, Kenneth K; Peto, Julian J; Eeles, Rosalind R; Easton, Douglas F DF; Dudakia, Darshna D; Orr, Nick N; Pashayan, Nora N; , ; , ; Bishop, D Timothy DT; Reid, Alison A; Huddart, Robert A RA; Shipley, Janet J; Grotmol, Tom T; Wiklund, Fredrik F; Houlston, Richard S RS; Turnbull, Clare C
Publication Date: 2017-07

Variant appearance in text: rs4888262
PubMed Link: 28604728
Variant Present in the following documents:
  • Main text
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: RFWD3: T404T; rs4888262
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Variants in BAK1, SPRY4, and GAB2 are associated with pediatric germ cell tumors: A report from the children's oncology group.

Genes, Chromosomes & Cancer
Marcotte, Erin L EL; Pankratz, Nathan N; Amatruda, James F JF; Frazier, A Lindsay AL; Krailo, Mark M; Davies, Stella S; Starr, Jacqueline R JR; Lau, Ching C CC; Roesler, Michelle M; Langer, Erica E; Hallstrom, Caroline C; Hooten, Anthony J AJ; Poynter, Jenny N JN
Publication Date: 2017-07

Variant appearance in text: rs4888262
PubMed Link: 28295819
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic changes associated with testicular cancer susceptibility.

Seminars In Oncology
Pyle, Louise C LC; Nathanson, Katherine L KL
Publication Date: 2016-10

Variant appearance in text: rs4888262
PubMed Link: 27899190
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study identifies multiple susceptibility loci for multiple myeloma.

Nature Communications
Mitchell, Jonathan S JS; Li, Ni N; Weinhold, Niels N; Försti, Asta A; Ali, Mina M; van Duin, Mark M; Thorleifsson, Gudmar G; Johnson, David C DC; Chen, Bowang B; Halvarsson, Britt-Marie BM; Gudbjartsson, Daniel F DF; Kuiper, Rowan R; Stephens, Owen W OW; Bertsch, Uta U; Broderick, Peter P; Campo, Chiara C; Einsele, Hermann H; Gregory, Walter A WA; Gullberg, Urban U; Henrion, Marc M; Hillengass, Jens J; Hoffmann, Per P; Jackson, Graham H GH; Johnsson, Ellinor E; Jöud, Magnus M; Kristinsson, Sigurður Y SY; Lenhoff, Stig S; Lenive, Oleg O; Mellqvist, Ulf-Henrik UH; Migliorini, Gabriele G; Nahi, Hareth H; Nelander, Sven S; Nickel, Jolanta J; Nöthen, Markus M MM; Rafnar, Thorunn T; Ross, Fiona M FM; da Silva Filho, Miguel Inacio MI; Swaminathan, Bhairavi B; Thomsen, Hauke H; Turesson, Ingemar I; Vangsted, Annette A; Vogel, Ulla U; Waage, Anders A; Walker, Brian A BA; Wihlborg, Anna-Karin AK; Broyl, Annemiek A; Davies, Faith E FE; Thorsteinsdottir, Unnur U; Langer, Christian C; Hansson, Markus M; Kaiser, Martin M; Sonneveld, Pieter P; Stefansson, Kari K; Morgan, Gareth J GJ; Goldschmidt, Hartmut H; Hemminki, Kari K; Nilsson, Björn B; Houlston, Richard S RS
Publication Date: 2016-07-01

Variant appearance in text: rs4888262
PubMed Link: 27363682
Variant Present in the following documents:
  • Main text
  • ncomms12050.pdf
View BVdb publication page



Whole exome sequencing identifies novel candidate genes that modify chronic obstructive pulmonary disease susceptibility.

Human Genomics
Bruse, Shannon S; Moreau, Michael M; Bromberg, Yana Y; Jang, Jun-Ho JH; Wang, Nan N; Ha, Hongseok H; Picchi, Maria M; Lin, Yong Y; Langley, Raymond J RJ; Qualls, Clifford C; Klensney-Tait, Julia J; Zabner, Joseph J; Leng, Shuguang S; Mao, Jenny J; Belinsky, Steven A SA; Xing, Jinchuan J; Nyunoya, Toru T
Publication Date: 2016-01-07

Variant appearance in text: RFWD3: T404T; rs4888262
PubMed Link: 26744305
Variant Present in the following documents:
  • 40246_2015_58_MOESM5_ESM.xlsx, sheet 3
  • 40246_2015_58_MOESM5_ESM.xlsx, sheet 2
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: RFWD3: T404T; rs4888262
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



Etiology and early pathogenesis of malignant testicular germ cell tumors: towards possibilities for preinvasive diagnosis.

Asian Journal Of Andrology
Elzinga-Tinke, Jenny E JE; Dohle, Gert R GR; Looijenga, Leendert Hj LH
Publication Date: 2015

Variant appearance in text: rs4888262
PubMed Link: 25791729
Variant Present in the following documents:
  • AJA-17-381.pdf
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: RFWD3: T404T
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_ESM.xlsx, sheet 1
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: RFWD3: T404T; rs4888262
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One
Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014

Variant appearance in text: N/A
PubMed Link: 25333361
Variant Present in the following documents:
View BVdb publication page



Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: RFWD3: T404T; rs4888262
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: RFWD3: T404T; rs4888262
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
  • cas0105-0202-SD3.xlsx, sheet 1
View BVdb publication page



Meta-analysis identifies four new loci associated with testicular germ cell tumor.

Nature Genetics
Chung, Charles C CC; Kanetsky, Peter A PA; Wang, Zhaoming Z; Hildebrandt, Michelle A T MA; Koster, Roelof R; Skotheim, Rolf I RI; Kratz, Christian P CP; Turnbull, Clare C; Cortessis, Victoria K VK; Bakken, Anne C AC; Bishop, D Timothy DT; Cook, Michael B MB; Erickson, R Loren RL; Fosså, Sophie D SD; Jacobs, Kevin B KB; Korde, Larissa A LA; Kraggerud, Sigrid M SM; Lothe, Ragnhild A RA; Loud, Jennifer T JT; Rahman, Nazneen N; Skinner, Eila C EC; Thomas, Duncan C DC; Wu, Xifeng X; Yeager, Meredith M; Schumacher, Fredrick R FR; Greene, Mark H MH; Schwartz, Stephen M SM; McGlynn, Katherine A KA; Chanock, Stephen J SJ; Nathanson, Katherine L KL
Publication Date: 2013-06

Variant appearance in text: rs4888262
PubMed Link: 23666239
Variant Present in the following documents:
  • Main text
  • nihms474977.pdf
View BVdb publication page