LDLR c.1217_1218delinsAT ;(p.R406H)

Variant ID: 19-11223984-GG-AT

NM_000527.4(LDLR):c.1217_1218delinsAT;(p.R406H)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Whole-exome sequencing in clear cell sarcoma of soft tissue uncovers novel prognostic categorization and drug targets.

Clinical And Translational Medicine
Li, Jingjing J; Chen, Chao C; Liu, Wei W; Liu, Songming S; Hu, Wanming W; Gao, Xiaoyan X; Liu, Geng G; Li, Dandan D; Ding, Ya Y; Wen, Xizhi X; Zhang, Xiuqing X; Hou, Yong Y; Zhang, Xing X; Li, Bo B; Zhang, Xiaoshi X; Zhang, Xi X
Publication Date: 2021-12

Variant appearance in text: LDLR: R406H
PubMed Link: 34923763
Variant Present in the following documents:
  • CTM2-11-e640-s002.xlsx, sheet 1
View BVdb publication page



A Multimodality Approach to Assessing Factor I Genetic Variants in Atypical Hemolytic Uremic Syndrome.

Kidney International Reports
Java, Anuja A; Pozzi, Nicola N; Love-Gregory, Latisha D LD; Heusel, Jonathan W JW; Sung, Yun Ju YJ; Hu, Zheng Z; Bertram, Paula P; Liszewski, M Kathryn MK; Cline, Laura M LM; Ren, Zhen Z; Atkinson, John P JP
Publication Date: 2019-07

Variant appearance in text: LDLR: R406H
PubMed Link: 31312772
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
Publication Date: 2018-09-10

Variant appearance in text: LDLR: R406H
PubMed Link: 30202019
Variant Present in the following documents:
  • 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: LDLR: R406H
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
  • oncotarget-08-95841-s002.xlsx, sheet 1
View BVdb publication page