Transcript #00008534

Transcript name potassium voltage-gated channel, Shal-related subfamily, member 1
Gene name KCND1 (potassium voltage-gated channel, Shal-related subfamily, member 1)
Chromosome X
Transcript - NCBI ID NM_004979.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_004970.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

68 entries on 1 page. Showing entries 1 - 68.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.141C>T r.(=) p.(=)
?/? c.275G>A r.(?) p.(Arg92His)
?/? c.295C>T r.(?) p.(Arg99*)
?/? c.296G>A r.(?) p.(Arg99Gln)
?/? c.305G>A r.(?) p.(Arg102Gln)
?/? c.376G>A r.(?) p.(Glu126Lys)
?/? c.436C>T r.(?) p.(Arg146Cys)
?/? c.460G>A r.(?) p.(Glu154Lys)
?/? c.469G>A r.(?) p.(Gly157Arg)
?/? c.475G>A r.(?) p.(Gly159Ser)
?/? c.529G>A r.(?) p.(Glu177Lys)
?/? c.632G>A r.(?) p.(Arg211His)
?/? c.634G>A r.(?) p.(Gly212Ser)
?/? c.644G>A r.(?) p.(Arg215His)
?/? c.672C>T r.(=) p.(=)
?/? c.676C>T r.(?) p.(Arg226Cys)
?/? c.716T>G r.(?) p.(Val239Gly)
?/? c.756C>T r.(=) p.(=)
?/? c.852C>T r.(=) p.(=)
?/? c.884G>A r.(?) p.(Arg295His)
?/? c.904A>G r.(?) p.(Ile302Val)
?/? c.1011C>A r.(=) p.(=)
?/? c.1057A>G r.(?) p.(Lys353Glu)
?/? c.1121+9G>T r.(=) p.(=)
?/? c.1121+18G>A r.(=) p.(=)
?/? c.1121+24G>A r.(=) p.(=)
?/? c.1122-22G>A r.(=) p.(=)
?/? c.1122-20C>T r.(=) p.(=)
?/? c.1125C>T r.(=) p.(=)
?/? c.1258C>T r.(?) p.(Arg420Trp)
?/? c.1284+6C>T r.(=) p.(=)
?/? c.1284+7G>A r.(=) p.(=)
?/? c.1284+8C>T r.(=) p.(=)
?/? c.1284+41C>T r.(=) p.(=)
?/? c.1284+50A>G r.(=) p.(=)
?/? c.1285-42T>C r.(=) p.(=)
?/? c.1291C>T r.(?) p.(Arg431Cys)
?/? c.1303A>G r.(?) p.(Ile435Val)
?/? c.1325C>T r.(?) p.(Thr442Ile)
?/? c.1366G>A r.(?) p.(Glu456Lys)
?/? c.1368+25G>A r.(=) p.(=)
?/? c.1368+39C>T r.(=) p.(=)
?/? c.1368+40G>A r.(=) p.(=)
?/? c.1396C>G r.(?) p.(Leu466Val)
?/? c.1402G>A r.(?) p.(Val468Ile)
?/? c.1466C>T r.(?) p.(Thr489Met)
?/? c.1467+36G>C r.(=) p.(=)
?/? c.1467+43C>T r.(=) p.(=)
?/? c.1468-27G>A r.(=) p.(=)
?/? c.1468-8G>T r.(=) p.(=)
?/? c.1470C>T r.(=) p.(=)
?/? c.1516G>A r.(?) p.(Val506Ile)
?/? c.1520C>T r.(?) p.(Ser507Leu)
?/? c.1541G>A r.(?) p.(Arg514His)
?/? c.1546A>T r.(?) p.(Thr516Ser)
?/? c.1586T>C r.(?) p.(Leu529Pro)
?/? c.1591T>G r.(?) p.(Ser531Ala)
?/? c.1655G>A r.(?) p.(Ser552Asn)
?/? c.1701G>C r.(?) p.(Arg567Ser)
?/? c.1710C>A r.(=) p.(=)
?/? c.1722C>T r.(=) p.(=)
?/? c.1723T>G r.(?) p.(Ser575Ala)
?/? c.1743C>T r.(=) p.(=)
?/? c.1775G>A r.(?) p.(Arg592Gln)
?/? c.1783G>A r.(?) p.(Val595Met)
?/? c.1857C>T r.(=) p.(=)
?/? c.1870G>A r.(?) p.(Gly624Ser)
?/? c.1874G>A r.(?) p.(Ser625Asn)
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