KCNC4

potassium voltage-gated channel subfamily C member 4

Summary

The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. It generates atypical voltage-dependent transient current that may be important for neuronal excitability. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]

Known Variants49 total

rsidPosition (GRCh37)AllelesClassClinVar
rs13565259161:110,754,255C/Tuncertain significance
rs5351487461:110,754,326G/Tuncertain significance
rs25246897951:110,754,347A/Tlikely benign
rs25246900111:110,754,363T/Clikely benign
rs25246909541:110,754,423G/Auncertain significance
rs7675203631:110,754,617G/Cuncertain significance
rs25246927731:110,754,626A/Glikely benign
rs3699333601:110,754,628C/Guncertain significance
rs16574901501:110,754,630G/Cuncertain significance
rs9879169271:110,754,641A/Glikely benign
rs7809442971:110,754,650G/Auncertain significance
rs3712900241:110,754,688G/Clikely benign
rs5430752391:110,754,698G/Cuncertain significance
rs25246938101:110,754,707G/Cuncertain significance
rs7581204471:110,754,720C/Tuncertain significance
rs7641503421:110,754,726C/Tuncertain significance
rs9668935611:110,765,667G/Auncertain significance
rs3767482171:110,765,674A/Guncertain significance
rs1416299391:110,765,693C/Tlikely benign
rs7746294381:110,765,703A/Guncertain significance
rs1447622871:110,765,712G/Auncertain significance
rs7638037071:110,765,920C/Guncertain significance
rs7798590891:110,766,132C/Guncertain significance
rs7681876541:110,766,145G/Auncertain significance
rs3678705221:110,766,333G/Auncertain significance
rs9852779231:110,766,354A/Guncertain significance
rs1435467221:110,766,381C/Tuncertain significance
rs2015336101:110,766,396C/Tuncertain significance
rs3767043791:110,766,400G/Auncertain significance
rs7685991051:110,766,430G/Auncertain significance
rs11690197951:110,766,487C/Tuncertain significance
rs1436110441:110,766,490G/Auncertain significance
rs7709791711:110,766,506C/Guncertain significance
rs3733224071:110,766,519G/Auncertain significance
rs1499511941:110,768,602A/Guncertain significance
rs1423029261:110,768,686G/Auncertain significance
rs1378857051:110,768,695C/Tuncertain significance
rs25247631281:110,768,702T/Cuncertain significance
rs1504810201:110,768,708G/Auncertain significance
rs344805991:110,768,715C/Alikely benign
rs10331221061:110,768,726G/Auncertain significance
rs7735603931:110,768,767G/Auncertain significance
rs7775719781:110,768,779G/Auncertain significance
rs2001845741:110,768,794C/Tuncertain significance
rs9587981:110,770,223G/A
rs7619481551:110,774,881C/Tuncertain significance
rs7723384691:110,774,884G/Cuncertain significance
rs1433947941:110,780,247A/Cdownstream gene variant
rs1854916041:110,790,909G/Aintron variant

Gene information from NCBI Gene. Variant classifications from ClinVar.