GENETIC ENCYCLOPEDIA
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gene: KCNF1

id3754
symbolKCNF1
organismHomo sapiens
full namepotassium voltage-gated channel modifier subfamily F member 1
summaryVoltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily F. This gene is intronless and expressed in all tissues tested, including the heart, skeletal muscle, brain, kidney, and pancreas. [provided by RefSeq, Jul 2008]
variant-disease

NM_002236.4(KCNF1):c.248C>T (p.Pro83Leu) AND Malignant tumor of prostate

GRCh38/hg38 2p25.1-24.3(chr2:10216779-13474790)x3 AND See cases

GRCh38/hg38 2p25.1-24.3(chr2:10790663-14417134)x3 AND See cases

GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1 AND See cases

GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3 AND See cases

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