Transcript #00023867 (NM_181882.2, PRX gene)

Transcript name transcript variant 2
Gene name PRX (periaxin)
Chromosome 19
Transcript - NCBI ID NM_181882.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_870998.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

147 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-242-1975C>T r.(=) p.(=)
?/. - c.-201C>T r.(=) p.(=)
?/. - c.-141G>A r.(=) p.(=)
?/. - c.-20A>C r.(?) p.(=)
?/. - c.2T>C r.(?) p.(Met1?)
-/. - c.28-52G>A r.(=) p.(=)
+/. 4i_5i c.(27+1_28-1)_(184+1_185-1)del r.? p.?
-?/. - c.44A>G r.(?) p.(Glu15Gly)
-?/. - c.46T>G r.(?) p.(Leu16Val)
-?/. - c.50T>G r.(?) p.(Val17Gly)
-?/. - c.53A>G r.(?) p.(Glu18Gly)
-?/. - c.65A>G r.(?) p.(Glu22Gly)
-/. - c.133C>G r.(?) p.(Arg45Gly)
-?/. - c.133C>G r.(?) p.(Arg45Gly)
+/. - c.176T>C r.(?) p.(Leu59Pro)
+/. 6 c.247del r.(?) p.(Leu83Cysfs*14)
-/. - c.306C>T r.(?) p.(Thr102=)
-/. - c.306C>T r.(?) p.(Thr102=)
-/. - c.306C>T r.(?) p.(Thr102=)
-?/. - c.381+81C>T r.(=) p.(=)
+/. 7 c.385_394dup r.(?) p.(Leu132Hisfs*22)
?/. - c.445G>A r.(?) p.(Ala149Thr)
-/. - c.471G>A r.(?) p.(Glu157=)
?/. - c.499C>T r.(?) p.(Arg167Cys)
-?/. - c.540G>A r.(?) p.(Pro180=)
+/. 7 c.586C>T r.(?) p.(Arg196*)
+/. - c.586C>T r.(?) p.(Arg196Ter)
?/. - c.589G>T r.(?) p.(Glu197*)
?/. - c.613G>C r.(?) p.(Ala205Pro)
?/. - c.719G>A r.(?) p.(Arg240Gln)
+/. 7 c.730del r.(?) p.(Ala244Argfs*69)
?/. - c.731C>T r.(?) p.(Ala244Val)
-/. - c.731C>T r.(?) p.(Ala244Val)
-/. - c.731C>T r.(?) p.(Ala244Val)
+/. 7 c.773_774dup r.(?) p.(Ser259Profs*55)
?/. - c.794G>T r.(?) p.(Gly265Val)
?/. - c.811C>T r.(?) p.(Pro271Ser)
?/. - c.823C>A r.(?) p.(Leu275Ile)
?/. - c.823C>A r.(?) p.(Leu275Ile)
?/. - c.862G>A r.(?) p.(Val288Met)
?/. - c.892C>T r.(?) p.(Pro298Ser)
+/. - c.913dup r.(?) p.(Thr305Asnfs*48)
+?/. - c.1012del r.(?) p.(Ala338Profs*18)
-/. - c.1051C>T r.(?) p.(Pro351Ser)
-?/. - c.1051C>T r.(?) p.(Pro351Ser)
+/. 7 c.1090C>T r.(?) p.(Arg364*)
+/. - c.1090C>T r.(?) p.(Arg364Ter)
+/. 7 c.1102C>T r.(?) p.(Arg368*)
+/. - c.1102C>T r.(?) p.(Arg368Ter)
-?/. - c.1113A>G r.(?) p.(Glu371=)
+/. 7 c.1194_1197del r.(?) p.(Leu400Trpfs*11)
-/. - c.1216G>A r.(?) p.(Ala406Thr)
-/. - c.1216G>A r.(?) p.(Ala406Thr)
-?/. - c.1251G>T r.(?) p.(Leu417=)
-/. - c.1281C>T r.(?) p.(Ile427=)
+?/. - c.1390C>T r.(?) p.(Arg464*)
-?/. - c.1446A>C r.(?) p.(Pro482=)
-/. - c.1483G>C r.(?) p.(Glu495Gln)
-/. - c.1491C>G r.(?) p.(Pro497=)
+/. - c.1491del r.(?) p.(Val499Cysfs*4)
-?/. - c.1500A>G r.(?) p.(Ser500=)
-/. - c.1500A>G r.(?) p.(Ser500=)
?/. - c.1538C>T r.(?) p.(Pro513Leu)
-?/. - c.1574T>C r.(?) p.(Val525Ala)
-?/. - c.1574T>C r.(?) p.(Val525Ala)
+/. 7 c.1639C>T r.(?) p.(Gln547*)
+?/. - c.1639C>T r.(?) p.(Gln547Ter)
?/. - c.1759C>T r.(?) p.(Leu587Phe)
-?/. - c.1836C>T r.(?) p.(Ala612=)
-/. - c.2017A>G r.(?) p.(Met673Val)
+/. 7 c.2044G>T r.(?) p.(Glu682*)
+/. 7 c.2098del r.(?) p.(Ala700Profs*18)
-?/. - c.2106C>T r.(?) p.(Pro702=)
+/. - c.2145T>A r.(?) p.(Cys715Ter)
+/. 7 c.2145T>A r.(?) p.(Cys715*)
?/. - c.2197C>T r.(?) p.(Pro733Ser)
-?/. - c.2254G>A r.(?) p.(Glu752Lys)
?/. - c.2254G>A r.(?) p.(Glu752Lys)
?/. - c.2282C>T r.(?) p.(Pro761Leu)
+/. 7 c.2289del r.(?) p.(Asp765Thrfs*10)
?/. - c.2326C>G r.(?) p.(Leu776Val)
?/. - c.2420C>G r.(?) p.(Pro807Arg)
+/. 7 c.2421del r.(?) p.(Lys808Serfs*2)
?/. - c.2464G>A r.(?) p.(Glu822Lys)
-/. - c.2469G>A r.(?) p.(Ala823=)
?/. - c.2548C>G r.(?) p.(Pro850Ala)
-?/. - c.2548C>G r.(?) p.(Pro850Ala)
-?/. - c.2571G>A r.(?) p.(Val857=)
+/. - c.2602del r.(?) p.(Gln868Argfs*53)
?/. - c.2620G>A r.(?) p.(Ala874Thr)
-/. - c.2645T>C r.(?) p.(Val882Ala)
-/. - c.2645T>C r.(?) p.(Val882Ala)
-/. - c.2645T>C r.(?) p.(Val882Ala)
-/. - c.2645T>G r.(?) p.(Val882Gly)
-/. - c.2655T>C r.(?) p.(Pro885=)
-/. - c.2655T>C r.(?) p.(Pro885=)
-/. - c.2655T>C r.(?) p.(Pro885=)
-/. - c.2727C>T r.(?) p.(Pro909=)
-?/. - c.2731G>A r.(?) p.(Val911Met)
-/. - c.2763A>G r.(?) p.(Ile921Met)
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