SECISBP2 c.2037G>C ;(p.E679D)

Variant ID: 9-91965691-G-C

NM_024077.3(SECISBP2):c.2037G>C;(p.E679D)

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:

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: SBP2: E679D
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: SBP2: E679D
PubMed Link: 34884733
Variant Present in the following documents:
  • Main text
  • ijms-22-12927.pdf
View BVdb publication page


Human Disorders Affecting the Selenocysteine Incorporation Pathway Cause Systemic Selenoprotein Deficiency.

Antioxidants & Redox Signaling
Schoenmakers, Erik E; Chatterjee, Krishna K
Publication Date: 2020-09-01

Variant appearance in text: SECISBP2: E679D
PubMed Link: 32295391
Variant Present in the following documents:
  • Main text
View BVdb publication page