Transcript #00000773 (NM_006729.4, DIAPH2 gene)

Transcript name transcript variant 156
Gene name DIAPH2 (diaphanous homolog 2 (Drosophila))
Chromosome X
Transcript - NCBI ID NM_006729.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_006720.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

44 entries on 1 page. Showing entries 1 - 44.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.70A>T r.(?) p.(Asn24Tyr)
-?/. - c.108G>T r.(?) p.(Glu36Asp)
?/. - c.179C>T r.(?) p.(Thr60Ile)
?/. 3 c.247G>A r.(?) p.(Ala83Thr)
-?/. - c.247G>A r.(?) p.(Ala83Thr)
?/. - c.448-143T>C r.(=) p.(=)
?/. - c.448-143T>C r.(=) p.(=)
-?/. - c.587+2785A>G r.(=) p.(=)
-?/. - c.587+2965G>A r.(=) p.(=)
-?/. - c.587+2999G>A r.(=) p.(=)
-?/. - c.587+3080A>G r.(=) p.(=)
-?/. - c.587+3160G>T r.(=) p.(=)
-?/. - c.587+3170A>G r.(=) p.(=)
-?/. 6 c.588C>T r.(?) p.(=)
-?/. - c.588C>T r.(?) p.(Ser196=)
?/. - c.660dup r.(?) p.(Gln221ThrfsTer6)
?/. - c.684G>C r.(?) p.(Lys228Asn)
?/. - c.733-21_733-20del r.(=) p.(=)
-/. - c.733-3del r.spl? p.?
-?/. - c.733-2_733-1del r.spl? p.?
?/. - c.736G>T r.(?) p.(Gly246Ter)
?/. - c.736_738del r.(?) p.(Gly246del)
-?/. - c.737G>T r.(?) p.(Gly246Val)
?/. - c.737_738del r.(?) p.(Gly246ValfsTer8)
?/. - c.943G>C r.(?) p.(Glu315Gln)
?/. - c.1326-137A>G r.(=) p.(=)
?/. - c.1326-137A>G r.(=) p.(=)
?/. - c.1444+40G>A r.(=) p.(=)
?/. - c.1444+40G>A r.(=) p.(=)
?/. - c.1935+66T>C r.(=) p.(=)
?/. - c.1935+66T>C r.(=) p.(=)
?/. - c.2084_2086del r.(?) p.(Lys695del)
-?/. - c.2200G>A r.(?) p.(Val734Ile)
-?/. - c.2331T>C r.(?) p.(Pro777=)
-?/. - c.2343A>T r.(?) p.(Gly781=)
-?/. - c.2805A>G r.(?) p.(Gln935=)
-?/. - c.2815C>A r.(?) p.(Gln939Lys)
?/. - c.2968G>A r.(?) p.(Glu990Lys)
-?/. - c.3009+4A>C r.spl? p.?
?/. - c.3106C>A r.(?) p.(Arg1036Ser)
?/. 26 c.3106C>A r.(?) p.(Arg1036Ser)
?/. - c.3241+65del r.(=) p.(=)
?/. - c.*1211G>A r.(=) p.(=)
?/. - c.*1211G>A r.(=) p.(=)
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