ZNF804A c.2120C>T ;(p.T707I)

Variant ID: 2-185802243-C-T

NM_194250.1(ZNF804A):c.2120C>T;(p.T707I)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Molecular landscape and subtype-specific therapeutic response of nasopharyngeal carcinoma revealed by integrative pharmacogenomics.

Nature Communications
Ding, Ren-Bo RB; Chen, Ping P; Rajendran, Barani Kumar BK; Lyu, Xueying X; Wang, Haitao H; Bao, Jiaolin J; Zeng, Jianming J; Hao, Wenhui W; Sun, Heng H; Wong, Ada Hang-Heng AH; Valecha, Monica Vishnu MV; Yang, Eun Ju EJ; Su, Sek Man SM; Choi, Tak Kan TK; Liu, Shuiming S; Chan, Kin Iong KI; Yang, Ling-Lin LL; Wu, Jingbo J; Miao, Kai K; Chen, Qiang Q; Shim, Joong Sup JS; Xu, Xiaoling X; Deng, Chu-Xia CX
Publication Date: 2021-05-24

Variant appearance in text: rs1366842
PubMed Link: 34031426
Variant Present in the following documents:
  • 41467_2021_23379_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs1366842
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Progress in genome-wide association studies of schizophrenia in Han Chinese populations.

Npj Schizophrenia
Yue, Weihua W; Yu, Xin X; Zhang, Dai D
Publication Date: 2017-08-10

Variant appearance in text: rs1366842
PubMed Link: 28798405
Variant Present in the following documents:
  • Main text
  • 41537_2017_Article_29.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs1366842
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs1366842
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Recent genetic findings in schizophrenia and their therapeutic relevance.

Journal Of Psychopharmacology (Oxford, England)
Harrison, Paul J PJ
Publication Date: 2015-02

Variant appearance in text: rs1366842
PubMed Link: 25315827
Variant Present in the following documents:
  • Main text
  • 10.1177_0269881114553647.pdf
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs1366842
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Fine mapping of ZNF804A and genome-wide significant evidence for its involvement in schizophrenia and bipolar disorder.

Molecular Psychiatry
Williams, H J HJ; Norton, N N; Dwyer, S S; Moskvina, V V; Nikolov, I I; Carroll, L L; Georgieva, L L; Williams, N M NM; Morris, D W DW; Quinn, E M EM; Giegling, I I; Ikeda, M M; Wood, J J; Lencz, T T; Hultman, C C; Lichtenstein, P P; Thiselton, D D; Maher, B S BS; , ; Malhotra, A K AK; Riley, B B; Kendler, K S KS; Gill, M M; Sullivan, P P; Sklar, P P; Purcell, S S; Nimgaonkar, V L VL; Kirov, G G; Holmans, P P; Corvin, A A; Rujescu, D D; Craddock, N N; Owen, M J MJ; O'Donovan, M C MC
Publication Date: 2011-04

Variant appearance in text: rs1366842
PubMed Link: 20368704
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

American Journal Of Human Genetics
Tuson, Miquel M; Marfany, Gemma G; Gonzàlez-Duarte, Roser R
Publication Date: 2004-01

Variant appearance in text: rs1366842
PubMed Link: 14681825
Variant Present in the following documents:
  • Main text
View BVdb publication page