CLCN2 c.2154G>T ;(p.E718D)

Variant ID: 3-184070588-C-A

NM_004366.5(CLCN2):c.2154G>T;(p.E718D)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: CLCN2: E718D
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: CLCN2: E718D
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Regulation of ClC-2 gating by intracellular ATP.

Pflugers Archiv : European Journal Of Physiology
Stölting, Gabriel G; Teodorescu, Georgeta G; Begemann, Birgit B; Schubert, Julian J; Nabbout, Rima R; Toliat, Mohammad Reza MR; Sander, Thomas T; Nürnberg, Peter P; Lerche, Holger H; Fahlke, Christoph C
Publication Date: 2013-10

Variant appearance in text: ClC-2: E718D
PubMed Link: 23632988
Variant Present in the following documents:
  • Main text
  • 424_2013_Article_1286.pdf
View BVdb publication page



Leukoencephalopathy upon disruption of the chloride channel ClC-2.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Blanz, Judith J; Schweizer, Michaela M; Auberson, Muriel M; Maier, Hannes H; Muenscher, Adrian A; Hübner, Christian A CA; Jentsch, Thomas J TJ
Publication Date: 2007-06-13

Variant appearance in text: ClC-2: E718D
PubMed Link: 17567819
Variant Present in the following documents:
  • Main text
View BVdb publication page