Transcript #00018952 (NM_005982.3, SIX1 gene)

Transcript name SIX homeobox 1
Gene name SIX1 (SIX homeobox 1)
Chromosome 14
Transcript - NCBI ID NM_005982.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_005973.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -
Date created 0000-00-00 00:00:00 +00:19 (LMT)
Date last edited N/A


Variants

56 entries on 1 page. Showing entries 1 - 56.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/. - c.? r.(?) p.(?)
?/. - c.13C>G r.(?) p.(Pro5Ala)
+?/. - c.31C>T r.(?) p.(Gln11Ter)
+?/. - c.31C>T r.(?) p.(Gln11Ter)
+?/. - c.40G>C r.(?) p.(Val14Leu)
+/+ 1 c.50T>A r.(?) p.(Val17Glu)
-?/. - c.58G>C r.(?) p.(Val20Leu)
+?/. - c.64C>T r.(?) p.(Gln22Ter)
+/. - c.64C>T r.(?) p.(Gln22Ter)
?/. - c.154G>T r.(?) p.(Ala52Ser)
?/. - c.155C>T r.(?) p.(Ala52Val)
-?/. - c.162G>A r.(?) p.(Ala54=)
-?/. - c.180C>G r.(?) p.(Arg60=)
?/. - c.197T>G r.(?) p.(Leu66Arg)
-?/. - c.208C>T r.(?) p.(Leu70=)
+/+ 1 c.218A>C r.(?) p.(His73Pro)
+/. - c.273_274insC r.(?) p.(Tyr92Leufs*62)
?/. - c.277G>A r.(?) p.(Val93Met)
+?/. - c.316G>A r.(?) p.(Val106Met)
+/+ 1 c.317T>G r.(?) p.(Val106Gly)
+/+ 1 c.328C>G r.(?) p.(Arg110Gly)
+/. - c.328C>T r.(?) p.(Arg110Trp)
+?/. - c.328C>T r.(?) p.(Arg110Trp)
+/+ 1 c.328C>T r.(?) p.(Arg110Trp)
+/+ 1 c.329G>A r.(?) p.(Arg110Gln)
+?/. - c.334C>G r.(?) p.(Arg112Gly)
+/+ 1 c.334C>T r.(?) p.(Arg112Cys)
+?/. - c.353C>T r.(?) p.(Pro118Leu)
+/+ 1 c.364T>A r.(?) p.(Trp122Arg)
?/. - c.366G>C r.(?) p.(Trp122Cys)
+?/. - c.368A>G r.(?) p.(Asp123Gly)
+/+ 1 c.373G>A r.(?) p.(Glu125Lys)
+?/. - c.373G>T r.(?) p.(Glu125Ter)
+?/. - c.374A>T r.(?) p.(Glu125Val)
+/. - c.386A>G r.(?) p.(Tyr129Cys)
+/. - c.386A>G r.(?) p.(Tyr129Cys)
+/. 1 c.386A>G r.(?) p.(Tyr129Cys)
+/+ 1 c.386A>G r.(?) p.(Tyr129Cys)
+?/. - c.397_399del r.(?) p.(Glu133del)
+/+ 1 c.397_399del r.(?) p.(Glu133del)
+?/. - c.452C>T r.(?) p.(Pro151Leu)
?/. - c.507C>T r.(?) p.(Ser169=)
+?/. - c.513G>A r.(?) p.(Trp171Ter)
?/. - c.518A>C r.(?) p.(Lys173Thr)
+?/. - c.523C>T r.(?) p.(Arg175Trp)
?/. - c.533G>A r.(?) p.(Arg178Lys)
+?/+? 1i c.560+1G>C r.spl? p.?
+?/. 1i c.560+3A>T r.spl? p.?
-?/. - c.578A>T r.(?) p.(Asn193Ile)
-?/. - c.578A>T r.(?) p.(Asn193Ile)
-?/. - c.578A>T r.(?) p.(Asn193Ile)
-?/. - c.578A>T r.(?) p.(Asn193Ile)
-?/. - c.615T>G r.(?) p.(Pro205=)
?/. - c.679G>T r.(?) p.(Asp227Tyr)
?/+ 2 c.679G>T r.(?) p.(Asp227Tyr)
?/. 2 c.746C>T r.(?) p.(Pro249Leu)
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