Transcript #00018471

Transcript name transcript variant 1
Gene name SREK1 (splicing regulatory glutamine/lysine-rich protein 1)
Chromosome 5
Transcript - NCBI ID NM_001077199.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001070667.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

74 entries on 1 page. Showing entries 1 - 74.
Legend  

Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-15G>C r.(=) p.(=)
?/? c.135C>T r.(=) p.(=)
?/? c.162-27T>C r.(=) p.(=)
?/? c.162-24A>C r.(=) p.(=)
?/? c.162-23T>C r.(=) p.(=)
?/? c.198T>C r.(=) p.(=)
?/? c.216A>G r.(=) p.(=)
?/? c.229G>A r.(?) p.(Val77Met)
?/? c.251C>T r.(?) p.(Thr84Met)
?/? c.295+14T>C r.(=) p.(=)
?/? c.296-20T>C r.(=) p.(=)
?/? c.296-3C>T r.spl? p.?
?/? c.352A>T r.(?) p.(Thr118Ser)
?/? c.390G>A r.(=) p.(=)
?/? c.411+45G>C r.(=) p.(=)
?/? c.412-5G>A r.spl? p.?
?/? c.577-52T>C r.(=) p.(=)
?/? c.577-6C>T r.(=) p.(=)
?/? c.624A>G r.(=) p.(=)
?/? c.702T>G r.(=) p.(=)
?/? c.755+46A>G r.(=) p.(=)
?/? c.756-48T>G r.(=) p.(=)
?/? c.792T>A r.(=) p.(=)
?/? c.795G>A r.(=) p.(=)
?/? c.886+13C>T r.(=) p.(=)
?/? c.886+23T>C r.(=) p.(=)
?/? c.886+28C>A r.(=) p.(=)
?/? c.887-4C>T r.spl? p.?
?/? c.926G>A r.(?) p.(Arg309His)
?/? c.937C>T r.(?) p.(Arg313Cys)
?/? c.963A>G r.(=) p.(=)
?/? c.1002-17C>G r.(=) p.(=)
?/? c.1032A>G r.(=) p.(=)
?/? c.1094G>A r.(?) p.(Arg365Gln)
?/? c.1109G>A r.(?) p.(Arg370His)
?/? c.1120C>A r.(=) p.(=)
?/? c.1121+26_1121+27insT r.(=) p.(=)
?/? c.1121+29_1121+30insC r.(=) p.(=)
?/? c.1121+47T>C r.(=) p.(=)
?/? c.1121+49del r.(=) p.(=)
?/? c.1122-43A>G r.(=) p.(=)
?/? c.1122-24_1122-21del r.(=) p.(=)
?/? c.1152C>G r.(?) p.(Ile384Met)
?/? c.1199A>G r.(?) p.(Glu400Gly)
?/? c.1235G>A r.(?) p.(Gly412Asp)
?/? c.1283_1284insT r.(?) p.(Lys429Glnfs*14)
?/? c.1288G>T r.(?) p.(Glu430*)
?/? c.1289A>T r.(?) p.(Glu430Val)
?/? c.1296C>A r.(?) p.(Asp432Glu)
?/? c.1306G>T r.(?) p.(Glu436*)
?/? c.1309C>T r.(?) p.(Arg437Trp)
?/? c.1394A>C r.(?) p.(Lys465Thr)
?/? c.1400T>C r.(?) p.(Ile467Thr)
?/? c.1458A>G r.(=) p.(=)
?/? c.1461G>A r.(=) p.(=)
?/? c.1466G>T r.(?) p.(Arg489Ile)
?/? c.1471C>T r.(?) p.(Arg491Cys)
?/? c.1472G>A r.(?) p.(Arg491His)
?/? c.1485-19A>T r.(=) p.(=)
?/? c.1524G>T r.(=) p.(=)
?/? c.1580+48A>G r.(=) p.(=)
?/? c.1580+49T>C r.(=) p.(=)
?/? c.1581-41C>T r.(=) p.(=)
?/? c.1635A>G r.(=) p.(=)
?/? c.1648C>T r.(?) p.(Arg550Cys)
?/? c.1656G>A r.(=) p.(=)
?/? c.1684G>A r.(?) p.(Asp562Asn)
?/? c.1687G>T r.(?) p.(Gly563Trp)
?/? c.1720C>T r.(?) p.(Leu574Phe)
?/? c.1726-40_1726-38del r.(=) p.(=)
?/? c.1728G>T r.(?) p.(Glu576Asp)
?/? c.1739A>G r.(?) p.(Asn580Ser)
?/? c.1740T>C r.(=) p.(=)
?/? c.1789C>T r.(?) p.(Pro597Ser)
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