H(+)/Cl(-) exchange transporter 6 isoform 1 [Homo sapiens]

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Molecular basis of ClC-6 function and its impairment in human disease. [Sci Adv. 2023]
Molecular basis of ClC-6 function and its impairment in human disease.
Zhang B, Zhang S, Polovitskaya MM, Yi J, Ye B, Li R, Huang X, Yin J, Neuens S, Balfroid T, et al. Sci Adv. 2023 Oct 13; 9(41):eadg4479. Epub 2023 Oct 13.
Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk. [Circ Cardiovasc Genet. 2016]
Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk.
Yu B, Pulit SL, Hwang SJ, Brody JA, Amin N, Auer PL, Bis JC, Boerwinkle E, Burke GL, Chakravarti A, et al. Circ Cardiovasc Genet. 2016 Feb; 9(1):64-70. Epub 2015 Dec 11.
Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures. [PLoS One. 2015]
Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures.
Yamamoto T, Shimojima K, Sangu N, Komoike Y, Ishii A, Abe S, Yamashita S, Imai K, Kubota T, Fukasawa T, et al. PLoS One. 2015; 10(3):e0118946. Epub 2015 Mar 20.

RefSeq mRNA
See reference mRNA sequence for the CLCN6 gene (NM_001286.5).
RefSeq protein isoforms
See the other reference sequence protein isoform for the CLCN6 gene (NP_001243888.2).

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NP_001277 [Domain Mapping of Disease Mut...]
NP_001277
Domain Mapping of Disease Mutations
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Protein