KCNK12 c.*8495T>C

Variant ID: 2-47739551-A-G

NM_022055.1(KCNK12):c.*8495T>C

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: rs2303424
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics
Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y
Publication Date: 2022

Variant appearance in text: rs2303424
PubMed Link: 35899134
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: rs2303424
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05

Variant appearance in text: rs2303424
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: rs2303424
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Potential Functional Variants in DNA Repair Genes Are Associated with Efficacy and Toxicity of Radiotherapy in Patients with Non-Small-Cell Lung Cancer.

Journal Of Oncology
Yang, Zhiguang Z; Liu, Zhaoyu Z
Publication Date: 2020

Variant appearance in text: rs2303424
PubMed Link: 32684929
Variant Present in the following documents:
  • Main text
  • JO2020-3132786.pdf
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs2303424
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30

Variant appearance in text: rs2303424
PubMed Link: 31470906
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Bmc Medical Genetics
Jia, Shuqin S; Zhang, Meng M; Sun, Yu Y; Yan, Hai H; Zhao, Fangping F; Li, Ziyu Z; Ji, Jiafu J
Publication Date: 2018-06-22

Variant appearance in text: rs2303424
PubMed Link: 29929473
Variant Present in the following documents:
  • 12881_2018_605_MOESM2_ESM.xlsx, sheet 2
  • 12881_2018_605_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases.

Journal Of Translational Medicine
Hamdi, Yosr Y; Boujemaa, Maroua M; Ben Rekaya, Mariem M; Ben Hamda, Cherif C; Mighri, Najah N; El Benna, Houda H; Mejri, Nesrine N; Labidi, Soumaya S; Daoud, Nouha N; Naouali, Chokri C; Messaoud, Olfa O; Chargui, Mariem M; Ghedira, Kais K; Boubaker, Mohamed Samir MS; Mrad, Ridha R; Boussen, Hamouda H; Abdelhak, Sonia S; ,
Publication Date: 2018-06-07

Variant appearance in text: rs2303424
PubMed Link: 29879995
Variant Present in the following documents:
  • Main text
  • 12967_2018_Article_1504.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: rs2303424
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Homozygous inactivation of CHEK2 is linked to a familial case of multiple primary lung cancer with accompanying cancers in other organs.

Cold Spring Harbor Molecular Case Studies
Kukita, Yoji Y; Okami, Jiro J; Yoneda-Kato, Noriko N; Nakamae, Ikuko I; Kawabata, Takeshi T; Higashiyama, Masahiko M; Kato, Junya J; Kodama, Ken K; Kato, Kikuya K
Publication Date: 2016-11

Variant appearance in text: rs2303424
PubMed Link: 27900359
Variant Present in the following documents:
  • Main text
  • KukitaMCS001032.pdf
View BVdb publication page



A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.

Cold Spring Harbor Molecular Case Studies
Lu, Charles C; Riedell, Peter P; Miller, Christopher A CA; Hagemann, Ian S IS; Westervelt, Peter P; Ozenberger, Bradley A BA; O'Laughlin, Michelle M; Magrini, Vincent V; Demeter, Ryan T RT; Duncavage, Eric J EJ; Griffith, Malachi M; Griffith, Obi L OL; Wartman, Lukas D LD
Publication Date: 2016-01

Variant appearance in text: rs2303424
PubMed Link: 27148581
Variant Present in the following documents:
  • supp_2.1.a000687_Supp_Table_2.xlsx, sheet 1
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: rs2303424
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: rs2303424
PubMed Link: 24728327
Variant Present in the following documents:
  • Main text
  • pone.0094554.s002.xlsx, sheet 1
  • pone.0094554.s002.xlsx, sheet 3
  • pone.0094554.pdf
View BVdb publication page



Evaluation of ultra-deep targeted sequencing for personalized breast cancer care.

Breast Cancer Research : Bcr
Harismendy, Olivier O; Schwab, Richard B RB; Alakus, Hakan H; Yost, Shawn E SE; Matsui, Hiroko H; Hasteh, Farnaz F; Wallace, Anne M AM; Park, Hannah L HL; Madlensky, Lisa L; Parker, Barbara B; Carpenter, Philip M PM; Jepsen, Kristen K; Anton-Culver, Hoda H; Frazer, Kelly A KA
Publication Date: 2013-12-10

Variant appearance in text: rs2303424
PubMed Link: 24326041
Variant Present in the following documents:
  • bcr3584-S1.pdf
View BVdb publication page