DSCAML1 c.5603G>A ;(p.R1868H)

Variant ID: 11-117301521-C-T

NM_020693.2(DSCAML1):c.5603G>A;(p.R1868H)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Integrated profiling of human pancreatic cancer organoids reveals chromatin accessibility features associated with drug sensitivity.

Nature Communications
Shi, Xiaohan X; Li, Yunguang Y; Yuan, Qiuyue Q; Tang, Shijie S; Guo, Shiwei S; Zhang, Yehan Y; He, Juan J; Zhang, Xiaoyu X; Han, Ming M; Liu, Zhuang Z; Zhu, Yiqin Y; Gao, Suizhi S; Wang, Huan H; Xu, Xiongfei X; Zheng, Kailian K; Jing, Wei W; Chen, Luonan L; Wang, Yong Y; Jin, Gang G; Gao, Dong D
Publication Date: 2022-04-21

Variant appearance in text: DSCAML1: R1928H
PubMed Link: 35449156
Variant Present in the following documents:
  • 41467_2022_29857_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.

Nature Communications
von Loga, Katharina K; Woolston, Andrew A; Punta, Marco M; Barber, Louise J LJ; Griffiths, Beatrice B; Semiannikova, Maria M; Spain, Georgia G; Challoner, Benjamin B; Fenwick, Kerry K; Simon, Ronald R; Marx, Andreas A; Sauter, Guido G; Lise, Stefano S; Matthews, Nik N; Gerlinger, Marco M
Publication Date: 2020-01-16

Variant appearance in text: DSCAML1: R1928H
PubMed Link: 31949146
Variant Present in the following documents:
  • 41467_2019_13915_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM).

Journal Of Medical Genetics
Wang, Kun K; Zhao, Sen S; Liu, Bowen B; Zhang, Qianqian Q; Li, Yaqi Y; Liu, Jiaqi J; Shen, Yan Y; Ding, Xinghuan X; Lin, Jiachen J; Wu, Yong Y; Yan, Zihui Z; Chen, Jia J; Li, Xiaoxin X; Song, Xiaofei X; Niu, Yuchen Y; Liu, Jian J; Chen, Weisheng W; Ming, Yue Y; Du, Renqian R; Chen, Cong C; Long, Bo B; Zhang, Yisen Y; Tong, Xiangjun X; Zhang, Shuyang S; Posey, Jennifer E JE; Zhang, Bo B; Wu, Zhihong Z; Wythe, Joshua D JD; Liu, Pengfei P; Lupski, James R JR; Yang, Xinjian X; Wu, Nan N
Publication Date: 2018-10

Variant appearance in text: DSCAML1: 5783G>A; Arg1928His
PubMed Link: 30120215
Variant Present in the following documents:
  • Main text
  • jmedgenet-2017-105224supp001.pdf
  • jmedgenet-2017-105224.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: DSCAML1: 5783G>A; R1928H
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.

Nature Communications
Liu, Jinfeng J; McCleland, Mark M; Stawiski, Eric W EW; Gnad, Florian F; Mayba, Oleg O; Haverty, Peter M PM; Durinck, Steffen S; Chen, Ying-Jiun YJ; Klijn, Christiaan C; Jhunjhunwala, Suchit S; Lawrence, Michael M; Liu, Hanbin H; Wan, Yinan Y; Chopra, Vivek V; Yaylaoglu, Murat B MB; Yuan, Wenlin W; Ha, Connie C; Gilbert, Houston N HN; Reeder, Jens J; Pau, Gregoire G; Stinson, Jeremy J; Stern, Howard M HM; Manning, Gerard G; Wu, Thomas D TD; Neve, Richard M RM; de Sauvage, Frederic J FJ; Modrusan, Zora Z; Seshagiri, Somasekar S; Firestein, Ron R; Zhang, Zemin Z
Publication Date: 2014-05-08

Variant appearance in text: DSCAML1: R1928H
PubMed Link: 24807215
Variant Present in the following documents:
  • ncomms4830-s10.xls, sheet 1
View BVdb publication page