KCNE2 c.40G>A ;(p.V14I)

Variant ID: 21-35742817-G-A

NM_172201.1(KCNE2):c.40G>A;(p.V14I)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Disease-linked mutations alter the stoichiometries of HCN-KCNE2 complexes.

Scientific Reports
Lussier, Yoann Y; Fürst, Oliver O; Fortea, Eva E; Leclerc, Marc M; Priolo, Dimitri D; Moeller, Lena L; Bichet, Daniel G DG; Blunck, Rikard R; D'Avanzo, Nazzareno N
Publication Date: 2019-06-24

Variant appearance in text: KCNE2: V14I
PubMed Link: 31235733
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_45592.pdf
View BVdb publication page



Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts.

European Journal Of Human Genetics : Ejhg
Paludan-Müller, Christian C; Ghouse, Jonas J; Vad, Oliver B OB; Herfelt, Cecilie B CB; Lundegaard, Pia P; Ahlberg, Gustav G; Schmitt, Nicole N; Svendsen, Jesper H JH; Haunsø, Stig S; Bundgaard, Henning H; Hansen, Torben T; Kanters, Jørgen K JK; Olesen, Morten S MS
Publication Date: 2019-09

Variant appearance in text: KCNE2: V14I
PubMed Link: 31043699
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: KCNE2: 40G>A; V14I; rs142153692
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.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: KCNE2: 40G>A; Val14Ile
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: KCNE2: V14I
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page



Cardiac ion channelopathies and the sudden infant death syndrome.

Isrn Cardiology
Wilders, Ronald R
Publication Date: 2012

Variant appearance in text: KCNE2: V14I
PubMed Link: 23304551
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tox-database.net: a curated resource for data describing chemical triggered in vitro cardiac ion channels inhibition.

Bmc Pharmacology & Toxicology
Polak, Sebastian S; Wiśniowska, Barbara B; Glinka, Anna A; Polak, Miłosz M
Publication Date: 2012-08-13

Variant appearance in text: KCNE2: V14I
PubMed Link: 22947121
Variant Present in the following documents:
  • Main text
  • 2050-6511-13-6.pdf
View BVdb publication page