KCNK3 c.608G>A ;(p.G203D)

Variant ID: 2-26950859-G-A

NM_002246.2(KCNK3):c.608G>A;(p.G203D)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Potassium Channels as Therapeutic Targets in Pulmonary Arterial Hypertension.

Biomolecules
Redel-Traub, Gabriel G; Sampson, Kevin J KJ; Kass, Robert S RS; Bohnen, Michael S MS
Publication Date: 2022-09-22

Variant appearance in text: KCNK3: G203D
PubMed Link: 36291551
Variant Present in the following documents:
  • Main text
  • biomolecules-12-01341.pdf
View BVdb publication page



A KCNK16 mutation causing TALK-1 gain of function is associated with maturity-onset diabetes of the young.

Jci Insight
Graff, Sarah M SM; Johnson, Stephanie R SR; Leo, Paul J PJ; Dadi, Prasanna K PK; Dickerson, Matthew T MT; Nakhe, Arya Y AY; McInerney-Leo, Aideen M AM; Marshall, Mhairi M; Zaborska, Karolina E KE; Schaub, Charles M CM; Brown, Matthew A MA; Jacobson, David A DA; Duncan, Emma L EL
Publication Date: 2021-07-08

Variant appearance in text: KCNK3: Gly203Asp
PubMed Link: 34032641
Variant Present in the following documents:
  • Main text
  • jciinsight-6-138057.pdf
View BVdb publication page



Implication of Potassium Channels in the Pathophysiology of Pulmonary Arterial Hypertension.

Biomolecules
Le Ribeuz, Hélène H; Capuano, Véronique V; Girerd, Barbara B; Humbert, Marc M; Montani, David D; Antigny, Fabrice F
Publication Date: 2020-09-01

Variant appearance in text: KCNK3: G203D
PubMed Link: 32882918
Variant Present in the following documents:
  • Main text
  • biomolecules-10-01261.pdf
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: KCNK3: G203D
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics
Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F
Publication Date: 2019-07-25

Variant appearance in text: KCNK3: G203D
PubMed Link: 31345222
Variant Present in the following documents:
  • 12920_2019_543_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page



Characterization and regulation of wild-type and mutant TASK-1 two pore domain potassium channels indicated in pulmonary arterial hypertension.

The Journal Of Physiology
Cunningham, Kevin P KP; Holden, Robyn G RG; Escribano-Subias, Pilar M PM; Cogolludo, Angel A; Veale, Emma L EL; Mathie, Alistair A
Publication Date: 2019-02

Variant appearance in text: TASK-1: G203D
PubMed Link: 30365877
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ion Channels in Pulmonary Hypertension: A Therapeutic Interest?

International Journal Of Molecular Sciences
Lambert, Mélanie M; Capuano, Véronique V; Olschewski, Andrea A; Sabourin, Jessica J; Nagaraj, Chandran C; Girerd, Barbara B; Weatherald, Jason J; Humbert, Marc M; Antigny, Fabrice F
Publication Date: 2018-10-14

Variant appearance in text: KCNK3: G203D
PubMed Link: 30322215
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.

Molecular Genetics & Genomic Medicine
Abbasi, Yeganeh Y; Jabbari, Javad J; Jabbari, Reza R; Glinge, Charlotte C; Izadyar, Seyed Bahador SB; Spiekerkoetter, Edda E; Zamanian, Roham T RT; Carlsen, Jørn J; Tfelt-Hansen, Jacob J
Publication Date: 2018-09

Variant appearance in text: KCNK3: G203D
PubMed Link: 30084161
Variant Present in the following documents:
  • Main text
  • MGG3-6-835.pdf
View BVdb publication page



TALK-1 channels control β cell endoplasmic reticulum Ca2+ homeostasis.

Science Signaling
Vierra, Nicholas C NC; Dadi, Prasanna K PK; Milian, Sarah C SC; Dickerson, Matthew T MT; Jordan, Kelli L KL; Gilon, Patrick P; Jacobson, David A DA
Publication Date: 2017-09-19

Variant appearance in text: TASK-1: G203D
PubMed Link: 28928238
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Impact of Heterozygous KCNK3 Mutations Associated With Pulmonary Arterial Hypertension on Channel Function and Pharmacological Recovery.

Journal Of The American Heart Association
Bohnen, Michael S MS; Roman-Campos, Danilo D; Terrenoire, Cecile C; Jnani, Jack J; Sampson, Kevin J KJ; Chung, Wendy K WK; Kass, Robert S RS
Publication Date: 2017-09-09

Variant appearance in text: KCNK3: G203D
PubMed Link: 28889099
Variant Present in the following documents:
  • JAH3-6-e006465.pdf
  • JAH3-6-e006465-s001.pdf
View BVdb publication page



A systematic review of genetic mutations in pulmonary arterial hypertension.

Bmc Medical Genetics
Garcia-Rivas, Gerardo G; Jerjes-Sánchez, Carlos C; Rodriguez, David D; Garcia-Pelaez, José J; Trevino, Victor V
Publication Date: 2017-08-02

Variant appearance in text: KCNK3: 608G>A; G203D
PubMed Link: 28768485
Variant Present in the following documents:
  • 12881_2017_440_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: KCNK3: 608G>A; Gly203Asp
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension.

Bmc Pulmonary Medicine
Higasa, Koichiro K; Ogawa, Aiko A; Terao, Chikashi C; Shimizu, Masakazu M; Kosugi, Shinji S; Yamada, Ryo R; Date, Hiroshi H; Matsubara, Hiromi H; Matsuda, Fumihiko F
Publication Date: 2017-04-07

Variant appearance in text: KCNK3: 608G>A; Gly203Asp
PubMed Link: 28388887
Variant Present in the following documents:
  • Main text
  • 12890_2017_Article_400.pdf
View BVdb publication page



Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Human Mutation
Machado, Rajiv D RD; Southgate, Laura L; Eichstaedt, Christina A CA; Aldred, Micheala A MA; Austin, Eric D ED; Best, D Hunter DH; Chung, Wendy K WK; Benjamin, Nicola N; Elliott, C Gregory CG; Eyries, Mélanie M; Fischer, Christine C; Gräf, Stefan S; Hinderhofer, Katrin K; Humbert, Marc M; Keiles, Steven B SB; Loyd, James E JE; Morrell, Nicholas W NW; Newman, John H JH; Soubrier, Florent F; Trembath, Richard C RC; Viales, Rebecca Rodríguez RR; Grünig, Ekkehard E
Publication Date: 2015-12

Variant appearance in text: KCNK3: 608G>A; G203D
PubMed Link: 26387786
Variant Present in the following documents:
  • Main text
View BVdb publication page



Breathing Stimulant Compounds Inhibit TASK-3 Potassium Channel Function Likely by Binding at a Common Site in the Channel Pore.

Molecular Pharmacology
Chokshi, Rikki H RH; Larsen, Aaron T AT; Bhayana, Brijesh B; Cotten, Joseph F JF
Publication Date: 2015-11

Variant appearance in text: TASK-1: G203D
PubMed Link: 26268529
Variant Present in the following documents:
  • Main text
View BVdb publication page



Epigenetic modulation as a therapeutic approach for pulmonary arterial hypertension.

Experimental & Molecular Medicine
Kim, Jun-Dae JD; Lee, Aram A; Choi, Jihea J; Park, Youngsook Y; Kang, Hyesoo H; Chang, Woochul W; Lee, Myeong-Sok MS; Kim, Jongmin J
Publication Date: 2015-07-31

Variant appearance in text: KCNK3: G203D
PubMed Link: 26228095
Variant Present in the following documents:
  • Main text
  • emm201545a.pdf
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: KCNK3: G203D
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page



A novel channelopathy in pulmonary arterial hypertension.

The New England Journal Of Medicine
Ma, Lijiang L; Roman-Campos, Danilo D; Austin, Eric D ED; Eyries, Mélanie M; Sampson, Kevin S KS; Soubrier, Florent F; Germain, Marine M; Trégouët, David-Alexandre DA; Borczuk, Alain A; Rosenzweig, Erika Berman EB; Girerd, Barbara B; Montani, David D; Humbert, Marc M; Loyd, James E JE; Kass, Robert S RS; Chung, Wendy K WK
Publication Date: 2013-07-25

Variant appearance in text:
PubMed Link: 23883380
Variant Present in the following documents:
  • Main text
View BVdb publication page