TNFRSF11A c.784G>A ;(p.E262K)

Variant ID: 18-60035934-G-A

NM_003839.3(TNFRSF11A):c.784G>A;(p.E262K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis.

Journal Of Human Genetics
Udupa, Prajna P; Ghosh, Debasish Kumar DK; Kausthubham, Neethukrishna N; Shah, Hitesh H; Bartakke, Sandip S; Dalal, Ashwin A; Girisha, Katta M KM; Bhavani, Gandham SriLakshmi GS
Publication Date: 2022-12-16

Variant appearance in text: TNFRSF11A: E262K
PubMed Link: 36526684
Variant Present in the following documents:
  • 10038_2022_Article_1104.pdf
View BVdb publication page



The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16

Variant appearance in text: TNFRSF11A: E262K
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page