TG c.1267C>T ;(p.R423C)

Variant ID: 8-133898884-C-T

NM_003235.4(TG):c.1267C>T;(p.R423C)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.

Orphanet Journal Of Rare Diseases
Pramparo, Tiziano T; Steiner, Robert D RD; Rodems, Steve S; Jenkinson, Celia C
Publication Date: 2023-01-17

Variant appearance in text: TG: 1267C>T
PubMed Link: 36650582
Variant Present in the following documents:
  • 13023_2022_2578_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: TG: 1267C>T
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Independent DSG4 frameshift variants in cats with hair shaft dystrophy.

Molecular Genetics And Genomics : Mgg
Kiener, Sarah S; Rostaher, Ana A; Rüfenacht, Silvia S; Jagannathan, Vidhya V; Sundberg, John P JP; Welle, Monika M; Leeb, Tosso T
Publication Date: 2022-01

Variant appearance in text: TG: 1267C>T
PubMed Link: 34878611
Variant Present in the following documents:
  • 438_2021_1842_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Independent DSG4 frameshift variants in cats with hair shaft dystrophy.

Molecular Genetics And Genomics : Mgg
Kiener, Sarah S; Rostaher, Ana A; Rüfenacht, Silvia S; Jagannathan, Vidhya V; Sundberg, John P JP; Welle, Monika M; Leeb, Tosso T
Publication Date: 2021-12-08

Variant appearance in text: TG: 1267C>T
PubMed Link: 34878611
Variant Present in the following documents:
  • 438_2021_1842_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: TG: 1267C>T
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred.

Lipids In Health And Disease
Mehta, Roopa R; Elías-López, Daniel D; Martagón, Alexandro J AJ; Pérez-Méndez, Oscar A OA; Sánchez, Maria Luisa Ordóñez MLO; Segura, Yayoi Y; Tusié, Maria Teresa MT; Aguilar-Salinas, Carlos A CA
Publication Date: 2021-07-13

Variant appearance in text: TG: 1267C>T
PubMed Link: 34256778
Variant Present in the following documents:
  • 12944_2021_Article_1498.pdf
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: TG: 1267C>T
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells
Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC
Publication Date: 2020-10-31

Variant appearance in text: TG: 1267C>T
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: TG: 1267C>T; Arg423Trp
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.

The British Journal Of Ophthalmology
Fujinami, Kaoru K; Strauss, Rupert W RW; Chiang, John Pei-Wen JP; Audo, Isabelle S IS; Bernstein, Paul S PS; Birch, David G DG; Bomotti, Samantha M SM; Cideciyan, Artur V AV; Ervin, Ann-Margret AM; Marino, Meghan J MJ; Sahel, José-Alain JA; Mohand-Said, Saddek S; Sunness, Janet S JS; Traboulsi, Elias I EI; West, Sheila S; Wojciechowski, Robert R; Zrenner, Eberhart E; Michaelides, Michel M; Scholl, Hendrik P N HPN; , ; ,
Publication Date: 2019-03

Variant appearance in text: TG: 1267C>T
PubMed Link: 29925512
Variant Present in the following documents:
  • bjophthalmol-2018-312064supp005.pdf
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: TG: 1267C>T; R423C
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s003.xlsx, sheet 1
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.

Ebiomedicine
Reunert, Janine J; Fobker, Manfred M; Kannenberg, Frank F; Du Chesne, Ingrid I; Plate, Maria M; Wellhausen, Judith J; Rust, Stephan S; Marquardt, Thorsten T
Publication Date: 2016-02

Variant appearance in text: TG: 1267C>T
PubMed Link: 26981555
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



An inside job: how endosomal Na(+)/H(+) exchangers link to autism and neurological disease.

Frontiers In Cellular Neuroscience
Kondapalli, Kalyan C KC; Prasad, Hari H; Rao, Rajini R
Publication Date: 2014

Variant appearance in text: TG: 1267C>T; R423X
PubMed Link: 25002837
Variant Present in the following documents:
  • Main text
  • fncel-08-00172.pdf
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: TG: 1267C>T; R423C
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page