SECISBP2 c.283del ;(p.Y95Ifs*31)

Variant ID: 9-91940440-CT-C

NM_024077.3(SECISBP2):c.283del;(p.Y95Ifs*31)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

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: 283delT
PubMed Link: 35126314
Variant Present in the following documents:
  • Main text
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: 283delT
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: 283delT
PubMed Link: 34884733
Variant Present in the following documents:
  • Main text
  • ijms-22-12927.pdf
View BVdb publication page