TG c.2200T>A ;(p.S734T)

Variant ID: 8-133900252-T-A

NM_003235.4(TG):c.2200T>A;(p.S734T)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Molecular Mechanisms in Autoimmune Thyroid Disease.

Cells
Vargas-Uricoechea, Hernando H
Publication Date: 2023-03-16

Variant appearance in text: rs180223
PubMed Link: 36980259
Variant Present in the following documents:
  • Main text
  • cells-12-00918.pdf
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs180223
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: TG: S734T; rs180223
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Genetic Variants Assessing Crohn's Disease Pattern in Pediatric Inflammatory Bowel Disease Patients by a Clinical Exome Survey.

Bioinformatics And Biology Insights
Noel, Dago Dougba DD; Marinella, Pinelli P; Mauro, Giacomelli G; Tripodi, Serena Ilaria SI; Pin, Alessia A; Serena, Arrigo A; Matteo, Bramuzzo B; Giuseppe, Fuoti Maurizio FM; Patrizia, Alvisi A; Stefano, Calza C; Tommasini, Alberto A; Raffaele, Badolato B
Publication Date: 2021

Variant appearance in text: rs180223
PubMed Link: 35002226
Variant Present in the following documents:
  • Main text
  • 10.1177_11779322211055285.pdf
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: rs180223
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: rs180223
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism.

Plos One
Makretskaya, Nina N; Bezlepkina, Olga O; Kolodkina, Anna A; Kiyaev, Alexey A; Vasilyev, Evgeny V EV; Petrov, Vasily V; Kalinenkova, Svetlana S; Malievsky, Oleg O; Dedov, Ivan I II; Tiulpakov, Anatoly A
Publication Date: 2018

Variant appearance in text: TG: S734T
PubMed Link: 30240412
Variant Present in the following documents:
  • Main text
  • pone.0204323.pdf
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: rs180223
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Dissecting the Genetic Susceptibility to Graves' Disease in a Cohort of Patients of Italian Origin.

Frontiers In Endocrinology
Lombardi, Angela A; Menconi, Francesca F; Greenberg, David D; Concepcion, Erlinda E; Leo, Marenza M; Rocchi, Roberto R; Marinó, Michele M; Keddache, Mehdi M; Tomer, Yaron Y
Publication Date: 2016

Variant appearance in text: rs180223
PubMed Link: 27014188
Variant Present in the following documents:
  • Main text
  • fendo-07-00021.pdf
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: rs180223
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



A 20 year history of clinical and genetic study of thyroid autoimmunity in a Tunisian multigenerational family: Evidence for gene interaction.

Meta Gene
Bougacha-Elleuch, Noura N; Charfi, Nadia N; Kharrat, Najla N; Ayadi, Fatma F; Maalej, Abdellatif A; Chabchoub, Ghazi G; Rebai, Ahmed A; Kammoun-Krichen, Maha M; Belguith-Maalej, Salima S; Abid, Mohamed M; Mnif, Mouna M; Ayadi, Hammadi H
Publication Date: 2014-12

Variant appearance in text: rs180223
PubMed Link: 25606390
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Interaction between thyroglobulin and ADAMTS16 in premature ovarian failure.

Clinical And Experimental Reproductive Medicine
Pyun, Jung-A JA; Kim, Sunshin S; Kwack, KyuBum K
Publication Date: 2014-09

Variant appearance in text: rs180223
PubMed Link: 25309856
Variant Present in the following documents:
  • Main text
  • cerm-41-120.pdf
View BVdb publication page



Using information interaction to discover epistatic effects in complex diseases.

Plos One
Anunciação, Orlando O; Vinga, Susana S; Oliveira, Arlindo L AL
Publication Date: 2013

Variant appearance in text: rs180223
PubMed Link: 24194833
Variant Present in the following documents:
  • Main text
  • pone.0076300.pdf
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: rs180223
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Common genetic variants in pituitary-thyroid axis genes and the risk of differentiated thyroid cancer.

Endocrine Connections
Pastor, Susana S; Akdi, Abdelmounaim A; González, Eddy R ER; Castell, Juan J; Biarnés, Josefina J; Marcos, Ricard R; Velázquez, Antonia A
Publication Date: 2012-11-01

Variant appearance in text: rs180223
PubMed Link: 23781307
Variant Present in the following documents:
  • Main text
  • ec-01-68.pdf
View BVdb publication page



Multiple SNPs in intron 41 of thyroglobulin gene are associated with autoimmune thyroid disease in the Japanese population.

Plos One
Ban, Yoshiyuki Y; Tozaki, Teruaki T; Taniyama, Matsuo M; Skrabanek, Luce L; Nakano, Yasuko Y; Ban, Yoshio Y; Hirano, Tsutomu T
Publication Date: 2012

Variant appearance in text: rs180223
PubMed Link: 22662162
Variant Present in the following documents:
  • Main text
  • pone.0037501.pdf
View BVdb publication page



Employing a recombinant HLA-DR3 expression system to dissect major histocompatibility complex II-thyroglobulin peptide dynamism: a genetic, biochemical, and reverse immunological perspective.

The Journal Of Biological Chemistry
Jacobson, Eric M EM; Yang, Heyi H; Menconi, Francesca F; Wang, Rong R; Osman, Roman R; Skrabanek, Luce L; Li, Cheuk Wun CW; Fadlalla, Mohammed M; Gandhi, Alisha A; Chaturvedi, Vijaya V; Smith, Eric P EP; Schwemberger, Sandy S; Osterburg, Andrew A; Babcock, George F GF; Tomer, Yaron Y
Publication Date: 2009-12-04

Variant appearance in text: rs180223
PubMed Link: 19776016
Variant Present in the following documents:
  • Main text
View BVdb publication page