ZNF592 c.2777G>C ;(p.S926T)

Variant ID: 15-85341859-G-C

NM_014630.2(ZNF592):c.2777G>C;(p.S926T)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Prioritizing natural-selection signals from the deep-sequencing genomic data suggests multi-variant adaptation in Tibetan highlanders.

National Science Review
Deng, Lian L; Zhang, Chao C; Yuan, Kai K; Gao, Yang Y; Pan, Yuwen Y; Ge, Xueling X; He, Yaoxi Y; Yuan, Yuan Y; Lu, Yan Y; Zhang, Xiaoxi X; Chen, Hao H; Lou, Haiyi H; Wang, Xiaoji X; Lu, Dongsheng D; Liu, Jiaojiao J; Tian, Lei L; Feng, Qidi Q; Khan, Asifullah A; Yang, Yajun Y; Jin, Zi-Bing ZB; Yang, Jian J; Lu, Fan F; Qu, Jia J; Kang, Longli L; Su, Bing B; Xu, Shuhua S
Publication Date: 2019-11

Variant appearance in text: rs8182086
PubMed Link: 34691999
Variant Present in the following documents:
  • Main text
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: rs8182086
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: rs8182086
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: rs8182086
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
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: rs8182086
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia.

Molecular Psychiatry
Chen, X X; Lee, G G; Maher, B S BS; Fanous, A H AH; Chen, J J; Zhao, Z Z; Guo, A A; van den Oord, E E; Sullivan, P F PF; Shi, J J; Levinson, D F DF; Gejman, P V PV; Sanders, A A; Duan, J J; Owen, M J MJ; Craddock, N J NJ; O'Donovan, M C MC; Blackman, J J; Lewis, D D; Kirov, G K GK; Qin, W W; Schwab, S S; Wildenauer, D D; Chowdari, K K; Nimgaonkar, V V; Straub, R E RE; Weinberger, D R DR; O'Neill, F A FA; Walsh, D D; Bronstein, M M; Darvasi, A A; Lencz, T T; Malhotra, A K AK; Rujescu, D D; Giegling, I I; Werge, T T; Hansen, T T; Ingason, A A; Nöethen, M M MM; Rietschel, M M; Cichon, S S; Djurovic, S S; Andreassen, O A OA; Cantor, R M RM; Ophoff, R R; Corvin, A A; Morris, D W DW; Gill, M M; Pato, C N CN; Pato, M T MT; Macedo, A A; Gurling, H M D HM; McQuillin, A A; Pimm, J J; Hultman, C C; Lichtenstein, P P; Sklar, P P; Purcell, S M SM; Scolnick, E E; St Clair, D D; Blackwood, D H R DH; Kendler, K S KS; , ; ,
Publication Date: 2011-11

Variant appearance in text: rs8182086
PubMed Link: 20838396
Variant Present in the following documents:
  • Main text
View BVdb publication page