APOB c.9718G>A ;(p.D3240N)

Variant ID: 2-21230022-C-T

NM_000384.2(APOB):c.9718G>A;(p.D3240N)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


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: APOB: 9718G>A; D3240N
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Targeting DNA Damage Response and Replication Stress in Pancreatic Cancer.

Gastroenterology
Dreyer, Stephan B SB; Upstill-Goddard, Rosie R; Paulus-Hock, Viola V; Paris, Clara C; Lampraki, Eirini-Maria EM; Dray, Eloise E; Serrels, Bryan B; Caligiuri, Giuseppina G; Rebus, Selma S; Plenker, Dennis D; Galluzzo, Zachary Z; Brunton, Holly H; Cunningham, Richard R; Tesson, Mathias M; Nourse, Craig C; Bailey, Ulla-Maja UM; Jones, Marc M; Moran-Jones, Kim K; Wright, Derek W DW; Duthie, Fraser F; Oien, Karin K; Evers, Lisa L; McKay, Colin J CJ; McGregor, Grant A GA; Gulati, Aditi A; Brough, Rachel R; Bajrami, Ilirjana I; Pettitt, Stephan S; Dziubinski, Michele L ML; Candido, Juliana J; Balkwill, Frances F; Barry, Simon T ST; Grützmann, Robert R; Rahib, Lola L; , ; , ; Johns, Amber A; Pajic, Marina M; Froeling, Fieke E M FEM; Beer, Phillip P; Musgrove, Elizabeth A EA; Petersen, Gloria M GM; Ashworth, Alan A; Frame, Margaret C MC; Crawford, Howard C HC; Simeone, Diane M DM; Lord, Chris C; Mukhopadhyay, Debabrata D; Pilarsky, Christian C; Tuveson, David A DA; Cooke, Susanna L SL; Jamieson, Nigel B NB; Morton, Jennifer P JP; Sansom, Owen J OJ; Bailey, Peter J PJ; Biankin, Andrew V AV; Chang, David K DK
Publication Date: 2021-01

Variant appearance in text: APOB: D3240N
PubMed Link: 33039466
Variant Present in the following documents:
  • mmc4.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: APOB: 9718G>A
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



HNF4A and GATA6 Loss Reveals Therapeutically Actionable Subtypes in Pancreatic Cancer.

Cell Reports
Brunton, Holly H; Caligiuri, Giuseppina G; Cunningham, Richard R; Upstill-Goddard, Rosie R; Bailey, Ulla-Maja UM; Garner, Ian M IM; Nourse, Craig C; Dreyer, Stephan S; Jones, Marc M; Moran-Jones, Kim K; Wright, Derek W DW; Paulus-Hock, Viola V; Nixon, Colin C; Thomson, Gemma G; Jamieson, Nigel B NB; McGregor, Grant A GA; Evers, Lisa L; McKay, Colin J CJ; Gulati, Aditi A; Brough, Rachel R; Bajrami, Ilirjana I; Pettitt, Stephen J SJ; Dziubinski, Michele L ML; Barry, Simon T ST; Grützmann, Robert R; Brown, Robert R; Curry, Edward E; , ; , ; Pajic, Marina M; Musgrove, Elizabeth A EA; Petersen, Gloria M GM; Shanks, Emma E; Ashworth, Alan A; Crawford, Howard C HC; Simeone, Diane M DM; Froeling, Fieke E M FEM; Lord, Christopher J CJ; Mukhopadhyay, Debabrata D; Pilarsky, Christian C; Grimmond, Sean E SE; Morton, Jennifer P JP; Sansom, Owen J OJ; Chang, David K DK; Bailey, Peter J PJ; Biankin, Andrew V AV
Publication Date: 2020-05-12

Variant appearance in text: APOB: D3240N
PubMed Link: 32402285
Variant Present in the following documents:
  • NIHMS1625804-supplement-Table_S4.xlsx, sheet 1
View BVdb publication page



Integrative Exome and Transcriptome Analysis of Conjunctival Melanoma and Its Potential Application for Personalized Therapy.

Jama Ophthalmology
Demirci, Hakan H; Demirci, F Yesim FY; Ciftci, Suleyman S; Elner, Victor M VM; Wu, Yi-Mi YM; Ning, Yu Y; Chinnaiyan, Arul A; Robinson, Dan R DR
Publication Date: 2019-12-01

Variant appearance in text: APOB: D3240N
PubMed Link: 31647501
Variant Present in the following documents:
  • Main text
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: APOB: 9718G>A; D3240N
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: APOB: 9718G>A; D3240N
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: APOB: 9718G>A; D3240N
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page