Transcript #00010587 (NM_198525.2, KIF7 gene)

Transcript name kinesin family member 7
Gene name KIF7 (kinesin family member 7)
Chromosome 15
Transcript - NCBI ID NM_198525.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_940927.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-5T>G r.(?) p.(=)
-/. - c.-5T>G r.(?) p.(=)
-/. - c.-5T>G r.(?) p.(=)
+/. - c.16C>T r.(?) p.(Gln6Ter)
+/. - c.61C>T r.(?) p.(Arg21Ter)
+/. - c.61C>T r.(?) p.(Arg21*)
?/. - c.62G>A r.(?) p.(Arg21Gln)
+?/? 2 c.67C>T r.(?) p.(Arg23*)
+?/? 2 c.67C>T r.(?) p.(Arg23*)
-?/. - c.72A>C r.(?) p.(Pro24=)
-?/. - c.96C>T r.(?) p.(His32=)
-?/. - c.99G>A r.(?) p.(Gly33=)
-?/. - c.150C>T r.(?) p.(Gly50=)
-/. - c.154G>A r.(?) p.(Asp52Asn)
-/. - c.154G>A r.(?) p.(Asp52Asn)
-/. - c.154G>A r.(?) p.(Asp52Asn)
-/. - c.154G>A r.(?) p.(Asp52Asn)
-/. - c.154G>A r.(?) p.(Asp52Asn)
-?/. - c.175G>C r.(?) p.(Val59Leu)
-/. - c.195G>C r.(?) p.(Ala65=)
-/. - c.195G>C r.(?) p.(Ala65=)
-/. - c.195G>C r.(?) p.(Ala65=)
-/. - c.195G>C r.(?) p.(Ala65=)
-/. - c.195G>C r.(?) p.(Ala65=)
-/. - c.216G>A r.(?) p.(Gln72=)
-/. - c.216G>A r.(?) p.(Gln72=)
+?/? 2 c.233_234del r.(?) p.(Leu78Profs*2)
+?/? 2 c.233_234del r.(?) p.(Leu78Profs*2)
+?/. - c.329-1G>A r.spl? p.?
-?/. - c.375C>T r.(?) p.(Ala125=)
?/. - c.434A>C r.(?) p.(Tyr145Ser)
+?/. 3 c.434A>C r.(?) p.(Tyr145Ser)
+?/? 3 c.460C>T r.(?) p.(Arg154*)
+?/? 3 c.460C>T r.(?) p.(Arg154*)
?/. - c.461G>A r.(?) p.(Arg154Gln)
+?/. - c.461G>A r.(?) p.(Arg154Gln)
?/. - c.505C>T r.(?) p.(Arg169Trp)
-?/. - c.530-8G>A r.(=) p.(=)
+?/? 4 c.587dupT r.(?) p.(Glu197Glyfs*19)
+?/? 4 c.587dupT r.(?) p.(Glu197Glyfs*19)
?/. - c.655A>G r.(?) p.(Thr219Ala)
+?/? 4 c.687del r.(?) p.(Arg230Alafs*92)
+?/? 4 c.687del r.(?) p.(Arg230Alafs*92)
-?/. - c.710G>T r.(?) p.(Arg237Leu)
?/. - c.721G>T r.(?) p.(Gly241Cys)
?/. - c.920C>T r.(?) p.(Thr307Ile)
?/. - c.934G>A r.(?) p.(Asp312Asn)
-?/. - c.978C>T r.(?) p.(Val326=)
?/. - c.1007C>A r.(?) p.(Thr336Asn)
?/. - c.1015A>C r.(?) p.(Thr339Pro)
?/. - c.1037C>G r.(?) p.(Ala346Gly)
?/. - c.1090C>T r.(?) p.(Pro364Ser)
-/. - c.1102A>G r.(?) p.(Thr368Ala)
-/. - c.1102A>G r.(?) p.(Thr368Ala)
-/. - c.1102A>G r.(?) p.(Thr368Ala)
-/. - c.1102A>G r.(?) p.(Thr368Ala)
-/. - c.1102A>G r.(?) p.(Thr368Ala)
-?/. - c.1119G>C r.(?) p.(Arg373=)
?/. - c.1124C>A r.(?) p.(Pro375Gln)
?/. - c.1163G>A r.(?) p.(Gly388Asp)
-?/. - c.1180C>G r.(?) p.(Pro394Ala)
?/. - c.1189G>A r.(?) p.(Ala397Thr)
-?/. - c.1220C>A r.(?) p.(Ala407Asp)
-?/. - c.1266C>G r.(?) p.(Leu422=)
?/. - c.1324G>A r.(?) p.(Asp442Asn)
?/. - c.1366T>G r.(?) p.(Ser456Ala)
?/. - c.1390A>G r.(?) p.(Ile464Val)
-/. - c.1429G>A r.(?) p.(Ala477Thr)
-/. - c.1444-4A>G r.spl? p.?
-/. - c.1444-4A>G r.spl? p.?
-?/. - c.1444-4A>G r.spl? p.?
+?/? 7 c.1639_1640delinsT r.(?) p.(Gly547Serfs*5)
+?/? 7 c.1639_1640delinsT r.(?) p.(Gly547Serfs*5)
+/. - c.1709dup r.(?) p.(Ala571Cysfs*18)
-?/. - c.1722T>C r.(?) p.(His574=)
-/. - c.1788+13T>C r.(=) p.(=)
-/. - c.1788+13T>C r.(=) p.(=)
-/. - c.1788+13T>C r.(=) p.(=)
-?/. - c.1789-7C>T r.(=) p.(=)
-?/. - c.1885G>A r.(?) p.(Glu629Lys)
-/. - c.1885G>A r.(?) p.(Glu629Lys)
-?/. - c.1885G>A r.(?) p.(Glu629Lys)
-?/. - c.1885G>A r.(?) p.(Glu629Lys)
?/. - c.1895C>T r.(?) p.(Pro632Leu)
+?/? 8 c.1895C>T r.(?) p.(Pro632Leu)
?/. - c.1918C>T r.(?) p.(Arg640Cys)
+?/? 8 c.1921A>G r.(?) p.(Arg641Gly)
-?/. - c.1926T>C r.(?) p.(Asn642=)
-?/. - c.1968G>A r.(?) p.(Gly656=)
-?/. - c.1989C>G r.(?) p.(Gly663=)
-/. - c.2043T>A r.(?) p.(Val681=)
-/. - c.2043T>A r.(?) p.(Val681=)
-/. - c.2043T>A r.(?) p.(Val681=)
-/. - c.2043T>A r.(?) p.(Val681=)
-?/. - c.2059C>A r.(?) p.(Arg687=)
-?/. - c.2074C>G r.(?) p.(Gln692Glu)
-?/. - c.2074C>G r.(?) p.(Gln692Glu)
?/. - c.2077G>T r.(?) p.(Val693Phe)
-?/. - c.2077G>T r.(?) p.(Val693Phe)
+?/? 10 c.2105G>A r.(?) p.(Arg702Gln)
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