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1185 CLCN6

1185

CLCN6

chloride voltage-gated channel 6

protein-coding

Homo sapiens

基因描述

Type Description
Definition chloride voltage-gated channel 6

研究结论

Date Results Publications
2021-01-16 16:00:00 A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl(-)/H(+)-Exchanger, Causes Early-Onset Neurodegeneration. 33217309
2016-11-12 11:09:00 These findings implicate the effect of rare coding variants in CLCN6 in Blood Pressure variation and offer new insights into Blood Pressure regulation. 26658788
2015-12-19 10:23:00 A non-synonymous single nucleotide variation (SNV) was identified in the voltage-sensitive chloride channel 6 gene. 25794116
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 21060006
2010-09-15 22:06:00 Observational study of gene-disease association. (HuGE Navigator) 19913121

名称对应

Type IDs
Synonymous CLC-6
Gene
UniProtKB-ID: CLCN6_HUMAN
UniprotKB: P51797
UniParc: UPI000013F2D3, UPI0000470376, UPI00020656F3, UPI000045613A, UPI0000470375, UPI0000456139
EMBL: AF009257, X83378, BC117424, X99475, BC117420, AF009248, AL953897, X99474, AF009252, X96391, AF009247, AF009253, AL021155, AF009254, X99472, AK294764, AF009256, AF009249, AF009250, AK289999, CH471130, X99473, AF009251, D28475, AF009255
Ensembl: ENSG00000011021
KO: hsa:1185
Nucleutide sequences
EMBL-CDS: EAW71715.1, BAF82688.1, AAI17421.1, CAA58292.1, CAA65255.1, BAA05836.4, AAI17425.1, CAA67838.1, CAA67837.1, BAG57898.1, AAB69287.1, CAA67836.1, CAA67835.1
Ensembl_TRS: ENST00000376496, ENST00000346436, ENST00000312413
Protein sequencees
Ensembl_PRO: ENSP00000365679, ENSP00000234488, ENSP00000308367
RefSeq: NP_001277.2, NP_001243888.2
Others
UniRef100: UniRef100_P51797
UniRef90: UniRef90_P51797
UniRef50: UniRef50_P51797
UniGene: Hs.193043
CCDS: CCDS138.1, CCDS57972.1

全选

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