Transcript #00014446

Transcript name transcript variant 2
Gene name PKP4 (plakophilin 4)
Chromosome 2
Transcript - NCBI ID NM_001005476.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001005476.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

213 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-5-40C>T r.(=) p.(=)
?/? c.-5-8G>C r.(=) p.(=)
?/? c.53G>T r.(?) p.(Arg18Leu)
?/? c.66C>T r.(=) p.(=)
?/? c.121G>A r.(?) p.(Val41Met)
?/? c.132+41A>T r.(=) p.(=)
?/? c.133-50_133-49del r.(=) p.(=)
?/? c.133-28A>G r.(=) p.(=)
?/? c.158G>A r.(?) p.(Arg53Gln)
?/? c.245+27T>C r.(=) p.(=)
?/? c.245+46C>T r.(=) p.(=)
?/? c.246-48_246-47del r.(=) p.(=)
?/? c.246-15_246-10del r.(=) p.(=)
?/? c.257A>G r.(?) p.(Lys86Arg)
?/? c.265C>T r.(?) p.(Pro89Ser)
?/? c.311G>C r.(?) p.(Arg104Thr)
?/? c.329A>G r.(?) p.(Gln110Arg)
?/? c.341A>G r.(?) p.(Tyr114Cys)
?/? c.355G>C r.(?) p.(Glu119Gln)
?/? c.370A>G r.(?) p.(Thr124Ala)
?/? c.412+1G>T r.spl? p.?
?/? c.412+39A>G r.(=) p.(=)
?/? c.413-52C>T r.(=) p.(=)
?/? c.413-51G>A r.(=) p.(=)
?/? c.413-34A>G r.(=) p.(=)
?/? c.413-30T>C r.(=) p.(=)
?/? c.413-11C>A r.(=) p.(=)
?/? c.509G>A r.(?) p.(Ser170Asn)
?/? c.537A>C r.(=) p.(=)
?/? c.603+12G>T r.(=) p.(=)
?/? c.604-41C>T r.(=) p.(=)
?/? c.604-36A>T r.(=) p.(=)
?/? c.604-22del r.(=) p.(=)
?/? c.604-16C>T r.(=) p.(=)
?/? c.604-14C>G r.(=) p.(=)
?/? c.604-5A>G r.spl? p.?
?/? c.676A>G r.(?) p.(Ile226Val)
?/? c.701G>T r.(?) p.(Arg234Met)
?/? c.711G>C r.(=) p.(=)
?/? c.730G>A r.(?) p.(Gly244Arg)
?/? c.744G>A r.(=) p.(=)
?/? c.753C>T r.(=) p.(=)
?/? c.764C>G r.(?) p.(Pro255Arg)
?/? c.838G>A r.(?) p.(Ala280Thr)
?/? c.857G>A r.(?) p.(Arg286Gln)
?/? c.865G>C r.(?) p.(Gly289Arg)
?/? c.875C>T r.(?) p.(Thr292Ile)
?/? c.881G>A r.(?) p.(Arg294Gln)
?/? c.927C>T r.(=) p.(=)
?/? c.936G>A r.(=) p.(=)
?/? c.939G>T r.(=) p.(=)
?/? c.951C>G r.(=) p.(=)
?/? c.956C>T r.(?) p.(Thr319Met)
?/? c.971G>A r.(?) p.(Arg324Gln)
?/? c.977C>A r.(?) p.(Ala326Asp)
?/? c.1005G>A r.(=) p.(=)
?/? c.1018C>T r.(?) p.(Arg340Cys)
?/? c.1066A>G r.(?) p.(Arg356Gly)
?/? c.1092C>T r.(=) p.(=)
?/? c.1143C>G r.(?) p.(Asp381Glu)
?/? c.1153+14G>A r.(=) p.(=)
?/? c.1154-17A>G r.(=) p.(=)
?/? c.1159C>T r.(?) p.(Arg387Trp)
?/? c.1160G>A r.(?) p.(Arg387Gln)
?/? c.1205G>A r.(?) p.(Arg402His)
?/? c.1213G>A r.(?) p.(Val405Met)
?/? c.1241T>A r.(?) p.(Ile414Lys)
?/? c.1269A>C r.(=) p.(=)
?/? c.1303C>T r.(?) p.(Leu435Phe)
?/? c.1313C>T r.(?) p.(Ser438Leu)
?/? c.1323G>A r.(=) p.(=)
?/? c.1342+17T>C r.(=) p.(=)
?/? c.1342+49del r.(=) p.(=)
?/? c.1343-40G>C r.(=) p.(=)
?/? c.1343-35A>G r.(=) p.(=)
?/? c.1343-9A>G r.(=) p.(=)
?/? c.1356T>C r.(=) p.(=)
?/? c.1379G>A r.(?) p.(Arg460Gln)
?/? c.1394A>G r.(?) p.(Tyr465Cys)
?/? c.1434C>T r.(=) p.(=)
?/? c.1437G>A r.(=) p.(=)
?/? c.1494G>A r.(=) p.(=)
?/? c.1519A>G r.(?) p.(Thr507Ala)
?/? c.1562+2C>T r.spl? p.?
?/? c.1562+17A>C r.(=) p.(=)
?/? c.1563-50A>G r.(=) p.(=)
?/? c.1563-39A>G r.(=) p.(=)
?/? c.1577G>A r.(?) p.(Arg526His)
?/? c.1587G>A r.(=) p.(=)
?/? c.1623C>T r.(=) p.(=)
?/? c.1647G>A r.(=) p.(=)
?/? c.1695+10A>C r.(=) p.(=)
?/? c.1695+15G>A r.(=) p.(=)
?/? c.1695+25A>T r.(=) p.(=)
?/? c.1696-51C>T r.(=) p.(=)
?/? c.1697T>G r.(?) p.(Val566Gly)
?/? c.1704G>A r.(=) p.(=)
?/? c.1713A>C r.(=) p.(=)
?/? c.1739A>G r.(?) p.(Asp580Gly)
?/? c.1791C>T r.(=) p.(=)
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