MPHOSPH9 c.446C>T ;(p.S149L)

Variant ID: 12-123706345-G-A

NM_022782.3(MPHOSPH9):c.446C>T;(p.S149L)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.

Biomedical Reports
Aitkulova, Akbota A; Mukhtarova, Kymbat K; Zholdybayeva, Elena E; Medetov, Yerkin Y; Dzhamantayeva, Botagoz B; Kassymbek, Kuat K; Utupov, Talgat T; Akhmetollayev, Ilyas I; Akshulakov, Serik S; Kulmambetova, Gulmira G; Ramankulov, Yerlan Y
Publication Date: 2022-08

Variant appearance in text: MPHOSPH9: S149L; rs201876941
PubMed Link: 35815187
Variant Present in the following documents:
  • Supplementary_Data.xlsx, sheet 1
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: MPHOSPH9: 446C>T; S149L
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: MPHOSPH9: 446C>T
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors.

Nature Communications
Adalsteinsson, Viktor A VA; Ha, Gavin G; Freeman, Samuel S SS; Choudhury, Atish D AD; Stover, Daniel G DG; Parsons, Heather A HA; Gydush, Gregory G; Reed, Sarah C SC; Rotem, Denisse D; Rhoades, Justin J; Loginov, Denis D; Livitz, Dimitri D; Rosebrock, Daniel D; Leshchiner, Ignaty I; Kim, Jaegil J; Stewart, Chip C; Rosenberg, Mara M; Francis, Joshua M JM; Zhang, Cheng-Zhong CZ; Cohen, Ofir O; Oh, Coyin C; Ding, Huiming H; Polak, Paz P; Lloyd, Max M; Mahmud, Sairah S; Helvie, Karla K; Merrill, Margaret S MS; Santiago, Rebecca A RA; O'Connor, Edward P EP; Jeong, Seong H SH; Leeson, Rachel R; Barry, Rachel M RM; Kramkowski, Joseph F JF; Zhang, Zhenwei Z; Polacek, Laura L; Lohr, Jens G JG; Schleicher, Molly M; Lipscomb, Emily E; Saltzman, Andrea A; Oliver, Nelly M NM; Marini, Lori L; Waks, Adrienne G AG; Harshman, Lauren C LC; Tolaney, Sara M SM; Van Allen, Eliezer M EM; Winer, Eric P EP; Lin, Nancy U NU; Nakabayashi, Mari M; Taplin, Mary-Ellen ME; Johannessen, Cory M CM; Garraway, Levi A LA; Golub, Todd R TR; Boehm, Jesse S JS; Wagle, Nikhil N; Getz, Gad G; Love, J Christopher JC; Meyerson, Matthew M
Publication Date: 2017-11-06

Variant appearance in text: MPHOSPH9: S149L
PubMed Link: 29109393
Variant Present in the following documents:
  • 41467_2017_965_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Genomic analysis of oesophageal squamous-cell carcinoma identifies alcohol drinking-related mutation signature and genomic alterations.

Nature Communications
Chang, Jiang J; Tan, Wenle W; Ling, Zhiqiang Z; Xi, Ruibin R; Shao, Mingming M; Chen, Mengjie M; Luo, Yingying Y; Zhao, Yanjie Y; Liu, Yun Y; Huang, Xiancong X; Xia, Yuchao Y; Hu, Jinlin J; Parker, Joel S JS; Marron, David D; Cui, Qionghua Q; Peng, Linna L; Chu, Jiahui J; Li, Hongmin H; Du, Zhongli Z; Han, Yaling Y; Tan, Wen W; Liu, Zhihua Z; Zhan, Qimin Q; Li, Yun Y; Mao, Weimin W; Wu, Chen C; Lin, Dongxin D
Publication Date: 2017-05-26

Variant appearance in text: MPHOSPH9: 446C>T
PubMed Link: 28548104
Variant Present in the following documents:
  • ncomms15290-s4.xlsx, sheet 1
View BVdb publication page