DISC1 c.860C>T ;(p.P287L)

Variant ID: 1-231830364-C-T

NM_018662.2(DISC1):c.860C>T;(p.P287L)

This variant was identified in 7 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: DISC1: 860C>T; P287L
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: DISC1: 860C>T
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine
Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D
Publication Date: 2019-12

Variant appearance in text: DISC1: 860C>T
PubMed Link: 31792460
Variant Present in the following documents:
  • 41591_2019_654_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: analysis for association with psychiatric disorder and cognitive traits.

Molecular Psychiatry
Thomson, P A PA; Parla, J S JS; McRae, A F AF; Kramer, M M; Ramakrishnan, K K; Yao, J J; Soares, D C DC; McCarthy, S S; Morris, S W SW; Cardone, L L; Cass, S S; Ghiban, E E; Hennah, W W; Evans, K L KL; Rebolini, D D; Millar, J K JK; Harris, S E SE; Starr, J M JM; MacIntyre, D J DJ; , ; McIntosh, A M AM; Watson, J D JD; Deary, I J IJ; Visscher, P M PM; Blackwood, D H DH; McCombie, W R WR; Porteous, D J DJ
Publication Date: 2014-06

Variant appearance in text: DISC1: P287L; rs146244276
PubMed Link: 23732877
Variant Present in the following documents:
  • mp201368x3.pdf
View BVdb publication page



Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.

American Journal Of Medical Genetics. Part A
Osbun, Nathan N; Li, Jiang J; O'Driscoll, Mary C MC; Strominger, Zoe Z; Wakahiro, Mari M; Rider, Eric E; Bukshpun, Polina P; Boland, Elena E; Spurrell, Cailyn H CH; Schackwitz, Wendy W; Pennacchio, Len A LA; Dobyns, William B WB; Black, Graeme C M GC; Sherr, Elliott H EH
Publication Date: 2011-08

Variant appearance in text: DISC1: P287L
PubMed Link: 21739582
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis indicates that common variants at the DISC1 locus are not associated with schizophrenia.

Molecular Psychiatry
Mathieson, I I; Munafò, M R MR; Flint, J J
Publication Date: 2012-06

Variant appearance in text: DISC1: P287L
PubMed Link: 21483435
Variant Present in the following documents:
  • Main text
  • mp201141a.pdf
View BVdb publication page