BRAF c.967T>C ;(p.S323P)

Variant ID: 7-140500175-A-G

NM_004333.4(BRAF):c.967T>C;(p.S323P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications
Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ
Publication Date: 2017-05-11

Variant appearance in text: BRAF: 967T>C
PubMed Link: 28492226
Variant Present in the following documents:
  • ncomms15086-s3.xlsx, sheet 1
View BVdb publication page



A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.

American Journal Of Medical Genetics. Part A
Gripp, Karen W KW; Aldinger, Kimberly A KA; Bennett, James T JT; Baker, Laura L; Tusi, Jessica J; Powell-Hamilton, Nina N; Stabley, Deborah D; Sol-Church, Katia K; Timms, Andrew E AE; Dobyns, William B WB
Publication Date: 2016-09

Variant appearance in text: BRAF: 967T>C; Ser323Pro
PubMed Link: 27264673
Variant Present in the following documents:
  • Main text
View BVdb publication page