Transcript #00024048 (NM_170784.2, MKKS gene)

Transcript name transcript variant 2
Gene name MKKS (McKusick-Kaufman syndrome)
Chromosome 20
Transcript - NCBI ID NM_170784.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_740754.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

230 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.? r.(?) p.F94SfsX9
+?/. - c.? r.(?) p.?
+?/. - c.? r.(?) p.?
+?/. - c.? r.(?) p.?
+?/. - c.? r.(?) p.?
+/. - c.? r.(?) p.?
+/. - c.? r.(?) p.?
+/. - c.-7485893_*1185894del r.0? p.0?
?/. 1 c.-3436C>T r.(?) p.?
+/. 1 c.? r.(?) p.?
-?/. - c.-649+2430T>G r.(=) p.(=)
-?/. - c.-417-13dup r.(=) p.(=)
?/. _3_6_ c.(?_-417-1)_*467{0} r.0 p.0
?/. 3 c.3G>H r.? p.?
-/. 3 c.16G>A r.(?) p.(Ala6Thr)
-/. - c.16G>A r.(?) p.(Ala6Thr)
?/. - c.59A>G r.(?) p.(Glu20Gly)
-?/. 3 c.67A>G r.(?) p.(Arg23Gly)
-?/. - c.67A>G r.(?) p.(Arg23Gly)
./. 3 c.67A>G r.(?) p.(Arg23Gly)
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys)
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys)
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys)
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys)
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys)
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys)
+/. 3 c.110A>G r.(?) p.(Tyr37Cys)
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys)
+?/. - c.110A>G r.(?) p.(Tyr37Cys)
?/. 3 c.110A>G r.(?) p.(Tyr37Cys)
+/. - c.110A>G r.(?) p.(Tyr37Cys)
+/. - c.110A>G r.(?) p.(Tyr37Cys)
+/. - c.110A>G r.(?) p.(Tyr37Cys)
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys)
-?/. 3 c.114C>T r.(?) p.(Gly38=)
+?/. 3 c.116C>T r.(?) p.(Pro39Leu)
+/. 3 c.117C>T r.(=) p.(=)
-/. 3 c.117C>T r.(?) p.(Pro39=)
-/. 3 c.117C>T r.(?) p.(Pro39=)
+/. 3 c.119C>G r.(?) p.(Ser40*)
+/. 3 c.119C>G r.(?) p.(Ser40*)
+/. 3 c.119C>G r.(?) p.(Ser40*)
+/. 3 c.121G>C r.(?) p.(Gly41Arg)
+?/. 3 c.121G>C r.(?) p.(Gly41Arg)
?/. 3 c.166A>G r.(?) p.(Thr56Ala)
+?/. 3 c.169A>G r.(?) p.(Thr57Ala)
?/. 3 c.169A>G r.(?) p.(Thr57Ala)
-/. 3 c.207C>T r.(?) p.(Val69=)
+?/. 3 c.269A>G r.(?) p.(Asp90Gly)
+/. 3 c.269A>G r.(?) p.(Asp90Gly)
+/. 3 c.269A>G r.(?) p.(Asp90Gly)
+/. 3 c.269A>G r.(?) p.(Asp90Gly)
+/. 3 c.295T>C r.(?) p.(Cys99Arg)
+/. 3 c.295T>C r.(?) p.(Cys99Arg)
+?/. 3 c.295T>C r.(?) p.(Cys99Arg)
+?/. - c.295T>C r.(?) p.(Cys99Arg)
+?/. - c.295T>C r.(?) p.(Cys99Arg)
-?/. - c.336A>G r.(?) p.(Thr112=)
?/. - c.363A>C r.(?) p.(Lys121Asn)
+?/. 3 c.380del r.(?) p.(Cys127Serfs*32)
+?/. - c.416G>A r.(?) p.(Arg139Gln)
-?/. 3 c.416G>A r.(?) p.(Arg139Gln)
-/. - c.416G>A r.(?) p.(Arg139Gln)
-?/. - c.420C>T r.(?) p.(Ile140=)
?/. 3 c.429delCT r.(?) p.?
?/. 3 c.429_433delinsTT r.(?) p.(Phe144_Ser145delinsCys)
+?/. - c.432_435del r.(?) p.(Phe144Leufs*14)
+?/. 3 c.433delAG r.(?) p.?
+?/. - c.442C>T r.(?) p.(Gln148*)
?/. - c.485C>T r.(?) p.(Pro162Leu)
+/. 3 c.492T>A r.(?) p.(Cys164*)
-/. 3 c.534C>T r.(?) p.(Ile178=)
-/. 3 c.534C>T r.(?) p.(Ile178=)
+/. 3 c.541G>C r.(?) p.(Ala181Pro)
+/. 3 c.541G>C r.(?) p.(Ala181Pro)
+/. 3 c.595_596del r.(?) p.(Ser199Phefs*22)
+/. 3 c.595_596del r.(?) p.(Ser199Phefs*22)
-?/. - c.636C>T r.(?) p.(Ser212=)
?/. 3 c.676C>A r.(?) p.(Gln226Lys)
+?/. 3 c.706T>C r.(?) p.(Ser236Pro)
+/. 3 c.709A>C r.(?) p.(Thr237Pro)
?/. 3 c.709A>G r.(?) p.(Thr237Ala)
?/. - c.724G>A r.(?) p.(Ala242Thr)
-?/. 3 c.724G>T r.(?) p.(Ala242Ser)
?/. - c.724G>T r.(?) p.(Ala242Ser)
-?/. 3 c.724G>T r.(?) p.(Ala242Ser)
+?/. 3 c.724G>T r.(?) p.(Ala242Ser)
?/. 3 c.724G>T r.(?) p.(Ala242Ser)
+?/. 3 c.724G>T r.(?) p.(Ala242Ser)
?/. 3 c.724G>T r.(?) p.(Ala242Ser)
+?/. 3 c.724G>T r.(?) p.(Ala242Ser)
-?/. 3 c.724G>T r.(?) p.(Ala242Ser)
+?/. 3 c.724G>T r.(?) p.(Ala242Ser)
+/. - c.724G>T r.(?) p.(Ala242Ser)
?/. 3 c.724G>T r.(?) p.(Ala242Ser)
-?/. - c.724G>T r.(?) p.(Ala242Ser)
-?/. 3 c.724G>T r.(?) p.(Ala242Ser)
-?/. 3 c.724G>T r.(?) p.(Ala242Ser)
-?/. 3 c.724G>T r.(?) p.(Ala242Ser)
-?/. - c.724G>T r.(?) p.(Ala242Ser)
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »