CDKN2D c.200C>T ;(p.P67L)

Variant ID: 19-10678035-G-A

NM_001800.3(CDKN2D):c.200C>T;(p.P67L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: CDKN2D: 200C>T; Pro67Leu
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
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: CDKN2D: 200C>T; P67L
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: CDKN2D: 200C>T; P67L; rs150037621
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
  • 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Personalized oncogenomic analysis of metastatic adenoid cystic carcinoma: using whole-genome sequencing to inform clinical decision-making.

Cold Spring Harbor Molecular Case Studies
Chahal, Manik M; Pleasance, Erin E; Grewal, Jasleen J; Zhao, Eric E; Ng, Tony T; Chapman, Erin E; Jones, Martin R MR; Shen, Yaoqing Y; Mungall, Karen L KL; Bonakdar, Melika M; Taylor, Gregory A GA; Ma, Yussanne Y; Mungall, Andrew J AJ; Moore, Richard A RA; Lim, Howard H; Renouf, Daniel D; Yip, Stephen S; Jones, Steven J M SJM; Marra, Marco A MA; Laskin, Janessa J
Publication Date: 2018-04

Variant appearance in text: CDKN2D: P67L
PubMed Link: 29610392
Variant Present in the following documents:
  • supp_mcs.a002626_Supplemental_Table_1.pdf
View BVdb publication page