ZNF230 c.883C>A ;(p.L295I)

Variant ID: 19-44515074-C-A

NM_006300.3(ZNF230):c.883C>A;(p.L295I)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Interaction analysis of ancestry-enriched variants with APOE-ɛ4 on MCI in the Study of Latinos-Investigation of Neurocognitive Aging.

Scientific Reports
Granot-Hershkovitz, Einat E; Xia, Rui R; Yang, Yunju Y; Spitzer, Brian B; Tarraf, Wassim W; Vásquez, Priscilla M PM; Lipton, Richard B RB; Daviglus, Martha M; Argos, Maria M; Cai, Jianwen J; Kaplan, Robert R; Fornage, Myriam M; DeCarli, Charles C; Gonzalez, Hector M HM; Sofer, Tamar T
Publication Date: 2023-03-29

Variant appearance in text: rs76261208
PubMed Link: 36991100
Variant Present in the following documents:
  • Main text
  • 41598_2023_Article_32028.pdf
View BVdb publication page



Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research
Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z
Publication Date: 2023-01-06

Variant appearance in text: ZNF230: L295I; rs76261208
PubMed Link: 36607615
Variant Present in the following documents:
  • can-22-2224_table_s8_suppst8.xlsx, sheet 17
  • can-22-2224_table_s8_suppst8.xlsx, sheet 13
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: ZNF230: L295I
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
View BVdb publication page



A synergetic effect of BARD1 mutations on tumorigenesis.

Nature Communications
Li, Wenjing W; Gu, Xiaoyang X; Liu, Chunhong C; Shi, Yanyan Y; Wang, Pan P; Zhang, Na N; Wu, Rui R; Leng, Liang L; Xie, Bingteng B; Song, Chen C; Li, Mo M
Publication Date: 2021-02-23

Variant appearance in text: ZNF230: L295I; rs76261208
PubMed Link: 33623049
Variant Present in the following documents:
  • 41467_2021_21519_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Systematic comparison of hUC-MSCs at various passages reveals the variations of signatures and therapeutic effect on acute graft-versus-host disease.

Stem Cell Research & Therapy
Zhao, Qinjun Q; Zhang, Leisheng L; Wei, Yimeng Y; Yu, Hao H; Zou, Linglin L; Huo, Jiali J; Yang, Hongju H; Song, Baoquan B; Wei, Teng T; Wu, Dan D; Zhang, Wenxia W; Zhang, Lei L; Liu, Dengke D; Li, Zongjin Z; Chi, Ying Y; Han, Zhibo Z; Han, Zhongchao Z
Publication Date: 2019-11-28

Variant appearance in text: ZNF230: L295I; rs76261208
PubMed Link: 31779707
Variant Present in the following documents:
  • 13287_2019_1478_MOESM6_ESM.xlsx, sheet 4
  • 13287_2019_1478_MOESM6_ESM.xlsx, sheet 1
  • 13287_2019_1478_MOESM6_ESM.xlsx, sheet 3
  • 13287_2019_1478_MOESM6_ESM.xlsx, sheet 9
  • 13287_2019_1478_MOESM6_ESM.xlsx, sheet 7
  • 13287_2019_1478_MOESM6_ESM.xlsx, sheet 6
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: ZNF230: 883C>A; Leu295Ile; rs76261208
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Molecular characterization and integrative genomic analysis of a panel of newly established penile cancer cell lines.

Cell Death & Disease
Zhou, Qiang-Hua QH; Deng, Chuang-Zhong CZ; Li, Zai-Shang ZS; Chen, Jie-Ping JP; Yao, Kai K; Huang, Kang-Bo KB; Liu, Ting-Yu TY; Liu, Zhuo-Wei ZW; Qin, Zi-Ke ZK; Zhou, Fang-Jian FJ; Huang, Wenlin W; Han, Hui H; Liu, Ran-Yi RY
Publication Date: 2018-06-07

Variant appearance in text: ZNF230: 883C>A; L295I; rs76261208
PubMed Link: 29880898
Variant Present in the following documents:
  • 41419_2018_736_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A
Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA
Publication Date: 2014

Variant appearance in text: ZNF230: L295I; rs76261208
PubMed Link: 25469153
Variant Present in the following documents:
  • 12979_2014_19_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.

Scientific Reports
Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK
Publication Date: 2014-11-14

Variant appearance in text: ZNF230: L295I; rs76261208
PubMed Link: 25394353
Variant Present in the following documents:
  • srep07063-s2.xls, sheet 2
View BVdb publication page