SECISBP2 c.2308C>T ;(p.R770*)

Variant ID: 9-91972953-C-T

NM_024077.3(SECISBP2):c.2308C>T;(p.R770*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Comprehensive functional genomic analyses link APC somatic mutation and mRNA-miRNA networks to the clinical outcome of stage-III colorectal cancer patients.

Biomedical Journal
Chiang, Sum-Fu SF; Huang, Heng-Hsuan HH; Tsai, Wen-Sy WS; Chin-Ming Tan, Bertrand B; Yang, Chia-Yu CY; Huang, Po-Jung PJ; Yi-Feng Chang, Ian I; Lin, Jiarong J; Lu, Pei-Shan PS; Chin, En E; Liu, Yu-Hao YH; Yu, Jau-Song JS; Chiang, Jy-Ming JM; Hung, Hsin-Yuan HY; You, Jeng-Fu JF; Liu, Hsuan H
Publication Date: 2022-04

Variant appearance in text: SECISBP2: R770X
PubMed Link: 35550340
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Inherited Disorders of Thyroid Hormone Metabolism Defect Caused by the Dysregulation of Selenoprotein Expression.

Frontiers In Endocrinology
Lee, Kyu Won KW; Shin, Yoochan Y; Lee, Sungahn S; Lee, Sihoon S
Publication Date: 2021

Variant appearance in text: SECISBP2: 2308C>T; R770X
PubMed Link: 35126314
Variant Present in the following documents:
  • Main text
  • fendo-12-803024.pdf
View BVdb publication page



Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency.

International Journal Of Molecular Sciences
Schoenmakers, Erik E; Chatterjee, Krishna K
Publication Date: 2021-11-29

Variant appearance in text: SECISBP2: 2308C>T; R770X
PubMed Link: 34884733
Variant Present in the following documents:
  • Main text
  • ijms-22-12927.pdf
View BVdb publication page



Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency.

International Journal Of Molecular Sciences
Schoenmakers, Erik E; Chatterjee, Krishna K
Publication Date: 2021-11-29

Variant appearance in text: SECISBP2: 2308C>T; R770X
PubMed Link: 34884733
Variant Present in the following documents:
  • Main text
  • ijms-22-12927.pdf
View BVdb publication page



Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations.

The Journal Of Clinical Endocrinology And Metabolism
Fu, Jiao J; Korwutthikulrangsri, Manassawee M; Gönç, E Nazli EN; Sillers, Laura L; Liao, Xiao-Hui XH; Alikaşifoğlu, Ayfer A; Kandemir, Nurgün N; Menucci, Maria Belen MB; Burman, Kenneth D KD; Weiss, Roy E RE; Dumitrescu, Alexandra M AM
Publication Date: 2020-03-01

Variant appearance in text: SBP2: 2308C>T
PubMed Link: 32084277
Variant Present in the following documents:
  • Main text
View BVdb publication page



Synthesis and decoding of selenocysteine and human health.

Croatian Medical Journal
Schmidt, Rachel L RL; Simonović, Miljan M
Publication Date: 2012-12

Variant appearance in text: SBP2: R770X
PubMed Link: 23275319
Variant Present in the following documents:
  • Main text
  • CroatMedJ_53_0535.pdf
View BVdb publication page



The syndromes of reduced sensitivity to thyroid hormone.

Biochimica Et Biophysica Acta
Dumitrescu, Alexandra M AM; Refetoff, Samuel S
Publication Date: 2013-07

Variant appearance in text: SBP2: 2308C>T
PubMed Link: 22986150
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inherited defects of thyroid hormone metabolism.

Annales D'Endocrinologie
Dumitrescu, A M AM; Refetoff, S S
Publication Date: 2011-04

Variant appearance in text: SBP2: R770X
PubMed Link: 21511232
Variant Present in the following documents:
  • Main text
View BVdb publication page