Transcript #00023835 (NM_006005.3, WFS1 gene)

Transcript name transcript variant 1
Gene name WFS1 (Wolfram syndrome 1 (wolframin))
Chromosome 4
Transcript - NCBI ID NM_006005.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_005996.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

864 entries on 9 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.2T>A r.(?) p.(Met1?)
-/. - c.9C>T r.(?) p.(Ser3=)
?/. - c.20C>T r.(?) p.(Pro7Leu)
-?/. - c.21G>T r.(?) p.(Pro7=)
-?/. - c.23T>C r.(?) p.(Leu8Pro)
-?/. - c.41A>G r.(?) p.(Gln14Arg)
-?/. - c.41A>G r.(?) p.(Gln14Arg)
-?/. - c.43C>T r.(?) p.(Pro15Ser)
-?/. - c.47C>T r.(?) p.(Pro16Leu)
-?/. - c.47C>T r.(?) p.(Pro16Leu)
-?/. - c.61C>A r.(?) p.(Pro21Thr)
?/. - c.68C>G r.(?) p.(Ala23Gly)
-?/. - c.69G>A r.(?) p.(Ala23=)
-?/. - c.77G>A r.(?) p.(Arg26Gln)
?/? 2 c.83A>G r.(?) p.(Asn28Ser)
?/? 2 c.95C>T r.(?) p.(Ser32Leu)
-?/. - c.96G>A r.(?) p.(Ser32=)
-/. - c.96G>A r.(?) p.(Ser32=)
-?/. - c.114C>T r.(?) p.(Ser38=)
?/. - c.124C>T r.(?) p.(Arg42Ter)
+/. - c.124C>T r.(?) p.(Arg42Ter)
+/. - c.124C>T r.(?) p.(Arg42Ter)
+/. - c.124C>T r.(?) p.(Arg42Ter)
?/? 2 c.124C>T r.(?) p.(Arg42*)
+?/. - c.124C>T r.(?) p.(Arg42*)
-?/-? 2 c.128C>T r.(?) p.(Ala43Val)
-?/. - c.129A>T r.(?) p.(Ala43=)
-?/. - c.129A>T r.(?) p.(Ala43=)
-?/-? 2 c.143C>T r.(?) p.(Ala48Val)
-?/. - c.154C>A r.(?) p.(Pro52Thr)
?/. - c.173C>T r.(?) p.(Ala58Val)
?/. - c.173C>T r.(?) p.(Ala58Val)
+/+ 2 c.173C>T r.(?) p.(Ala58Val)
-?/. - c.189C>T r.(?) p.(Pro63=)
-/. - c.225C>T r.(?) p.(Asp75=)
-?/. - c.225C>T r.(?) p.(Asp75=)
-?/. - c.227G>T r.(?) p.(Gly76Val)
-?/. - c.231C>T r.(?) p.(Thr77=)
-?/. 2i c.233-3592C>G r.(?) p.(=)
?/. - c.233-5T>A r.(?) p.?
+?/. - c.292G>A r.(?) p.(Gly98Arg)
+/+ 3 c.307C>T r.(?) p.(Gln103*)
+/+ 4 c.319G>C r.(?) p.(Gly107Arg)
+/+ 4 c.320G>A r.(?) p.(Gly107Glu)
?/? 4 c.325C>T r.(?) p.(His109Tyr)
-?/. - c.325C>T r.(?) p.(His109Tyr)
+/+ 4 c.328T>A r.(?) p.(Tyr110Asn)
-?/. - c.343G>A r.(?) p.(Gly115Ser)
-?/. - c.343G>A r.(?) p.(Gly115Ser)
-/. - c.350C>T r.(?) p.(Thr117Met)
-?/. - c.350C>T r.(?) p.(Thr117Met)
-?/. - c.353A>C r.(?) p.(Asp118Ala)
-/. - c.353A>C r.(?) p.(Asp118Ala)
-?/. - c.363C>T r.(?) p.(Leu121=)
+/. - c.376G>A r.(?) p.(Ala126Thr)
+/+ 4 c.376G>A r.(?) p.(Ala126Thr)
+/+ 4 c.387G>A r.(?) p.(Trp129*)
?/. 4 c.392T>G r.(?) p.(Val131Gly)
?/. 4 c.392T>G r.(?) p.(Val131Gly)
?/. 4 c.392T>G r.(?) p.(Val131Gly)
+/+ 4 c.397G>A r.(?) p.(Ala133Thr)
-?/. - c.402G>A r.(?) p.(Ala134=)
-?/. - c.402G>A r.(?) p.(Ala134=)
+/+ 4 c.406C>T r.(?) p.(Gln136*)
+?/. - c.409_424dup r.(?) p.(Val142GlyfsTer110)
+/. - c.409_424dup r.(?) p.(Val142GlyfsTer110)
+/+ 4 c.409_424dup r.(?) p.(Val142Glyfs*110)
?/. - c.415C>T r.(?) p.(Arg139Cys)
-?/. - c.417C>G r.(?) p.(Arg139=)
-?/. - c.417C>G r.(?) p.(Arg139=)
?/. - c.418G>A r.(?) p.(Glu140Lys)
?/. - c.418G>A r.(?) p.(Glu140Lys)
+/+ 4 c.439del r.(?) p.(Arg147Glyfs*17)
-?/. - c.449C>T r.(?) p.(Ala150Val)
+/. - c.460+1G>A r.spl? p.?
+/+ 4i c.460+1G>A r.spl? p.?
-/. - c.461-15C>T r.(=) p.(=)
-/. - c.461-15C>T r.(=) p.(=)
-/. - c.461-15C>T r.(=) p.(=)
-/. - c.461-9A>G r.(=) p.(=)
-/. - c.461-9A>G r.(=) p.(=)
-/. - c.461-9A>G r.(=) p.(=)
-/. - c.461-9A>G r.(=) p.(=)
-?/. - c.461-7C>A r.(=) p.(=)
+/+ 5 c.467C>T r.(?) p.(Thr156Met)
+/+ 5 c.472G>A r.(?) p.(Glu158Lys)
-?/. - c.482G>A r.(?) p.(Arg161Gln)
-?/. - c.482G>A r.(?) p.(Arg161Gln)
-?/. - c.482G>A r.(?) p.(Arg161Gln)
?/. - c.500C>T r.(?) p.(Ser167Phe)
-?/. - c.504C>A r.(?) p.(Ser168=)
-?/. - c.504C>T r.(?) p.(Ser168=)
?/. - c.505G>A r.(?) p.(Glu169Lys)
-?/. - c.510C>G r.(?) p.(Thr170=)
+/+ 5 c.511G>A r.(?) p.(Asp171Asn)
+/. - c.517G>T r.(?) p.(Glu173Ter)
+/+ 5 c.530G>C r.(?) p.(Arg177Pro)
+/+ 5 c.532_537del r.(?) p.(Lys178_Ala179del)
+/+ 5 c.533_538del r.(?) p.(Lys178_Ala180delinsThr)
-?/. - c.541C>T r.(?) p.(Leu181=)
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