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BRAF c.968C>T ;(p.S323L)
Variant ID: 7-140500174-G-A
NM_004333.4(
BRAF
):c.968C>T;(p.S323L)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Clinical and genomic features of Chinese lung cancer patients with germline mutations.
Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10
Variant appearance in text: BRAF: 968C>T; S323L
PubMed Link:
35273153
Variant Present in the following documents:
41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Genome Medicine
Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS
Publication Date: 2019-11-29
Variant appearance in text: BRAF: 968C>T; Ser323Leu
PubMed Link:
31783775
Variant Present in the following documents:
13073_2019_683_MOESM2_ESM.xlsx, sheet 12
View BVdb publication page
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018
Variant appearance in text: BRAF: 968C>T; Ser323Leu; rs397516907
PubMed Link:
29641532
Variant Present in the following documents:
pone.0194098.s003.xlsx, sheet 2
View BVdb publication page
Sources of discordance among germ-line variant classifications in ClinVar.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10
Variant appearance in text: BRAF: 968C>T; Ser323Leu
PubMed Link:
28569743
Variant Present in the following documents:
gim201760x7.xlsx, sheet 2
View BVdb publication page
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: 968C>T; rs397516907
PubMed Link:
28492226
Variant Present in the following documents:
ncomms15086-s3.xlsx, sheet 1
View BVdb publication page
BRaf signaling principles unveiled by large-scale human mutation analysis with a rapid lentivirus-based gene replacement method.
Genes & Development
Lim, Chae-Seok CS; Kang, Xi X; Mirabella, Vincent V; Zhang, Huaye H; Bu, Qian Q; Araki, Yoichi Y; Hoang, Elizabeth T ET; Wang, Shiqiang S; Shen, Ying Y; Choi, Sukwoo S; Kaang, Bong-Kiun BK; Chang, Qiang Q; Pang, Zhiping P ZP; Huganir, Richard L RL; Zhu, J Julius JJ
Publication Date: 2017-03-15
Variant appearance in text: BRAF: S323L
PubMed Link:
28404629
Variant Present in the following documents:
supp_31.6.537_Supplemental_Materials.pdf
View BVdb publication page