Transcript #00020540 (NM_016169.3, SUFU gene)

Transcript name transcript variant 1
Gene name SUFU (suppressor of fused homolog (Drosophila))
Chromosome 10
Transcript - NCBI ID NM_016169.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_057253.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

57 entries on 1 page. Showing entries 1 - 57.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.12G>A r.(?) p.(Leu4=)
-?/. - c.31G>C r.(?) p.(Gly11Arg)
-?/. - c.37A>C r.(?) p.(Thr13Pro)
-?/. - c.40G>C r.(?) p.(Ala14Pro)
?/. - c.50C>T r.(?) p.(Ala17Val)
+/. - c.71del r.(?) p.(Pro24ArgfsTer72)
+/. - c.71del r.(?) p.(Pro24ArgfsTer72)
+/. - c.142C>T r.(?) p.(Gln48Ter)
-/. - c.182+16C>T r.(=) p.(=)
-/. - c.182+16C>T r.(=) p.(=)
-/. - c.182+189C>T r.(=) p.(=)
-/. - c.183-126G>C r.(=) p.(=)
-?/. 1i c.183-66C>A r.(?) p.(=)
-/. - c.183-49G>C r.(=) p.(=)
-/. - c.210T>C r.(?) p.(Tyr70=)
-?/. - c.318-17C>A r.(=) p.(=)
?/. - c.412G>A r.(?) p.(Ala138Thr)
-?/. - c.506A>G r.(?) p.(Asn169Ser)
+/. - c.510dup r.(?) p.(Glu171Ter)
+/. 4 c.527A>G r.(?) p.(His176Arg)
+/. 4 c.527A>G r.(?) p.(His176Arg)
-?/. - c.600C>T r.(?) p.(Ile200=)
-?/. - c.600C>T r.(?) p.(Ile200=)
-?/. - c.600C>T r.(?) p.(Ile200=)
+/. - c.616G>T r.(?) p.(Glu206Ter)
+/. - c.629C>G r.(?) p.(Ser210Ter)
?/. - c.715C>T r.(?) p.(Arg239Trp)
+/. - c.756+1G>A r.spl? p.?
+?/. - c.756+2T>C r.spl? p.?
-/. - c.757-75A>G r.(=) p.(=)
+?/. - c.793_794del r.(?) p.(Asn265Profs*12)
-?/. - c.882C>T r.(?) p.(Gly294=)
-?/. - c.910+14C>T r.(=) p.(=)
-?/. - c.910+14C>T r.(=) p.(=)
-?/. - c.911-7G>A r.(=) p.(=)
-?/. - c.911-7G>A r.(=) p.(=)
?/. - c.992G>A r.(?) p.(Arg331Gln)
-?/. - c.1018G>T r.(?) p.(Ala340Ser)
-/. - c.1018G>T r.(?) p.(Ala340Ser)
-/. - c.1018G>T r.(?) p.(Ala340Ser)
?/. - c.1022C>T r.(?) p.(Pro341Leu)
-?/. - c.1023-9G>C r.(=) p.(=)
?/. - c.1023-3C>T r.spl? p.?
-/. - c.1157+99G>A r.(=) p.(=)
+/. 10 c.1217T>C r.(?) p.(Ile406Thr)
+/. 10 c.1217T>C r.(?) p.(Ile406Thr)
-/. - c.1291T>C r.(?) p.(Leu431=)
-/. - c.1296+1565G>A r.(=) p.(=)
-/. - c.1299T>C r.(?) p.(Ile433=)
-?/. - c.1308C>T r.(?) p.(Thr436=)
-/. - c.1365+19T>C r.(=) p.(=)
-/. - c.1365+19T>C r.(=) p.(=)
?/. - c.1375C>A r.(?) p.(Pro459Thr)
-/. - c.*20= r.(=) p.(=)
-/. - c.*20= r.(=) p.(=)
-?/. - c.*1672A>G r.(=) p.(=)
-?/. - c.*1672A>G r.(=) p.(=)
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