GENETIC ENCYCLOPEDIA
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gene: KCNJ16

id3773
symbolKCNJ16
organismHomo sapiens
full namepotassium voltage-gated channel subfamily J member 16
summaryPotassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which tends to allow potassium to flow into rather than out of a cell, can form heterodimers with two other inward-rectifier type potassium channels. It may function in fluid and pH balance regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
variant-disease

NM_018658.2(KCNJ16):c.-167+1A>G AND not specified

GRCh37/hg19 17q24.3(chr17:67671686-70691445)x3 AND not provided

GRCh38/hg38 17q24.3(chr17:70093968-70709796)x3 AND See cases

GRCh38/hg38 17q24.3(chr17:70089117-71111424)x3 AND See cases

GRCh38/hg38 17q24.3(chr17:69766783-71154921)x1 AND See cases

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