FAT1 c.1212T>C ;(p.S404=)

Variant ID: 4-187629770-A-G

NM_005245.3(FAT1):c.1212T>C;(p.S404=)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs3733414
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.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: FAT1: S404S
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_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: FAT1: S404S
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



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs3733414
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
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: rs3733414
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Common and Rare Coding Genetic Variation Underlying the Electrocardiographic PR Interval.

Circulation. Genomic And Precision Medicine
Lin, Honghuang H; van Setten, Jessica J; Smith, Albert V AV; Bihlmeyer, Nathan A NA; Warren, Helen R HR; Brody, Jennifer A JA; Radmanesh, Farid F; Hall, Leanne L; Grarup, Niels N; Müller-Nurasyid, Martina M; Boutin, Thibaud T; Verweij, Niek N; Lin, Henry J HJ; Li-Gao, Ruifang R; van den Berg, Marten E ME; Marten, Jonathan J; Weiss, Stefan S; Prins, Bram P BP; Haessler, Jeffrey J; Lyytikäinen, Leo-Pekka LP; Mei, Hao H; Harris, Tamara B TB; Launer, Lenore J LJ; Li, Man M; Alonso, Alvaro A; Soliman, Elsayed Z EZ; Connell, John M JM; Huang, Paul L PL; Weng, Lu-Chen LC; Jameson, Heather S HS; Hucker, William W; Hanley, Alan A; Tucker, Nathan R NR; Chen, Yii-Der Ida YI; Bis, Joshua C JC; Rice, Kenneth M KM; Sitlani, Colleen M CM; Kors, Jan A JA; Xie, Zhijun Z; Wen, Chengping C; Magnani, Jared W JW; Nelson, Christopher P CP; Kanters, Jørgen K JK; Sinner, Moritz F MF; Strauch, Konstantin K; Peters, Annette A; Waldenberger, Melanie M; Meitinger, Thomas T; Bork-Jensen, Jette J; Pedersen, Oluf O; Linneberg, Allan A; Rudan, Igor I; de Boer, Rudolf A RA; van der Meer, Peter P; Yao, Jie J; Guo, Xiuqing X; Taylor, Kent D KD; Sotoodehnia, Nona N; Rotter, Jerome I JI; Mook-Kanamori, Dennis O DO; Trompet, Stella S; Rivadeneira, Fernando F; Uitterlinden, André A; Eijgelsheim, Mark M; Padmanabhan, Sandosh S; Smith, Blair H BH; Völzke, Henry H; Felix, Stephan B SB; Homuth, Georg G; Völker, Uwe U; Mangino, Massimo M; Spector, Timothy D TD; Bots, Michiel L ML; Perez, Marco M; Kähönen, Mika M; Raitakari, Olli T OT; Gudnason, Vilmundur V; Arking, Dan E DE; Munroe, Patricia B PB; Psaty, Bruce M BM; van Duijn, Cornelia M CM; Benjamin, Emelia J EJ; Rosand, Jonathan J; Samani, Nilesh J NJ; Hansen, Torben T; Kääb, Stefan S; Polasek, Ozren O; van der Harst, Pim P; Heckbert, Susan R SR; Jukema, J Wouter JW; Stricker, Bruno H BH; Hayward, Caroline C; Dörr, Marcus M; Jamshidi, Yalda Y; Asselbergs, Folkert W FW; Kooperberg, Charles C; Lehtimäki, Terho T; Wilson, James G JG; Ellinor, Patrick T PT; Lubitz, Steven A SA; Isaacs, Aaron A
Publication Date: 2018-05

Variant appearance in text: rs3733414
PubMed Link: 29748316
Variant Present in the following documents:
  • Main text
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: rs3733414
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
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: rs3733414
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Frequent loss of heterozygosity and altered expression of the candidate tumor suppressor gene 'FAT' in human astrocytic tumors.

Bmc Cancer
Chosdol, Kunzang K; Misra, Anjan A; Puri, Sachin S; Srivastava, Tapasya T; Chattopadhyay, Parthaprasad P; Sarkar, Chitra C; Mahapatra, Ashok K AK; Sinha, Subrata S
Publication Date: 2009-01-07

Variant appearance in text: rs3733414
PubMed Link: 19126244
Variant Present in the following documents:
  • Main text
  • 1471-2407-9-5.pdf
View BVdb publication page