SI c.613_615delinsCAT ;(p.R205H)

Variant ID: 3-164785148-CCT-ATG

NM_001041.3(SI):c.613_615delinsCAT;(p.R205H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Hydrophobic gasket mutation produces gating pore currents in closed human voltage-gated proton channels.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Banh, Richard R; Cherny, Vladimir V VV; Morgan, Deri D; Musset, Boris B; Thomas, Sarah S; Kulleperuma, Kethika K; Smith, Susan M E SME; Pomès, Régis R; DeCoursey, Thomas E TE
Publication Date: 2019-09-17

Variant appearance in text: SI: R205H
PubMed Link: 31462498
Variant Present in the following documents:
  • Main text
  • pnas.201905462.pdf
View BVdb publication page



Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: SI: R205H
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
  • mmc6.xlsx, sheet 3
  • mmc6.xlsx, sheet 2
View BVdb publication page