Transcript #00000648 (NM_005462.4, MAGEC1 gene)

Transcript name melanoma antigen family C, 1
Gene name MAGEC1 (melanoma antigen family C, 1)
Chromosome X
Transcript - NCBI ID NM_005462.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_005453.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.2T>C r.(?) p.(Met1?)
-?/. - c.39T>G r.(?) p.(Ser13Arg)
?/. - c.74G>A r.(?) p.(Cys25Tyr)
-?/. - c.267C>T r.(=) p.(=)
-?/. - c.341T>G r.(?) p.(Ile114Ser)
?/. - c.395C>T r.(?) p.(Ala132Val)
-?/. - c.395C>T r.(?) p.(Ala132Val)
-?/. - c.414T>C r.(?) p.(Ser138=)
?/. - c.561A>C r.(?) p.(Gln187His)
-?/. - c.610C>T r.(?) p.(Arg204Cys)
-?/. - c.611G>C r.(?) p.(Arg204Pro)
?/. - c.631T>G r.(?) p.(Leu211Val)
?/. - c.631T>G r.(?) p.(Leu211Val)
?/. - c.631_840del r.(?) p.(Leu211_Leu280del)
?/. - c.637A>C r.(?) p.(Ile213Leu)
-?/. - c.660A>T r.(?) p.(Arg220Ser)
?/. - c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAA r.(?) p.(Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLeuSerIlePheGlnSerSerProGluArg)
?/. - c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAA r.(?) p.(Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSerProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerLeuPheGlnSerSerProGluArg)
?/. - c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGTTTTCCAGAGTTCCCCTGAGAGAA r.(?) p.(Thr221SerfsTer24)
-?/. - c.666G>C r.(?) p.(Gln222His)
?/. - c.694C>G r.(?) p.(Pro232Ala)
?/. - c.694_798del r.(?) p.(Pro232_Ser266del)
?/. - c.709G>A r.(?) p.(Val237Met)
?/. - c.715C>G r.(?) p.(Pro239Ala)
?/. - c.718T>G r.(?) p.(Ser240Ala)
?/. - c.721_722insTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCT r.(?) p.(Ser240_Ser241insPheSerSerThrLeuLeuSerLeuPheGlnSerPheSerGluArgThrGlnSerThrPheGluGlyPheAlaGlnSerProLeuGlnIleProValSerProSer)
?/. - c.721_722insTCTCCTCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCT r.(?) p.(Ser241PhefsTer4)
?/. - c.722_826del r.(?) p.(Ser241_Ser275del)
?/. - c.754_755insCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAG r.(?) p.(Phe252SerfsTer35)
?/. - c.815T>G r.(?) p.(Val272Gly)
-?/. - c.820_822del r.(?) p.(Pro274del)
?/. - c.821C>G r.(?) p.(Pro274Arg)
?/. - c.821C>G r.(?) p.(Pro274Arg)
?/. - c.847_853del r.(?) p.(Leu283ArgfsTer23)
?/. - c.855_952del r.(?) p.(Gln285HisfsTer7)
-?/. - c.904C>T r.(?) p.(Pro302Ser)
-?/. - c.938C>A r.(?) p.(Ser313Tyr)
?/. - c.957C>A r.(?) p.(Phe319Leu)
?/. - c.965C>T r.(?) p.(Ser322Phe)
-?/. - c.967C>T r.(?) p.(Pro323Ser)
?/. - c.980_981insGAGTACTTTTGAGGGTTTTCCCCAGTCTCTTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCA r.(?) p.(Thr326_His327insGlnSerThrPheGluGlyPheProGlnSerLeuLeuGlnIleProValSerProSerPheSerSerThrLeuLeuSerLeuPheGlnSerSerProGluArgThr)
?/. - c.981_982del r.(?) p.(His327GlnfsTer4)
?/. - c.984_1086del r.(?) p.(Ser328ArgfsTer25)
?/. - c.1000C>G r.(?) p.(Pro334Ala)
?/. - c.1024_1128del r.(?) p.(Met342_Pro376del)
?/. - c.1025T>G r.(?) p.(Met342Arg)
-?/. - c.1053_1056del r.(?) p.(Ser352PhefsTer34)
-?/. - c.1057A>C r.(?) p.(Ile353Leu)
?/. - c.1080T>A r.(?) p.(Ser360Arg)
?/. - c.1081G>A r.(?) p.(Ala361Thr)
-?/. - c.1105C>G r.(?) p.(Pro369Ala)
-?/. - c.1115C>T r.(?) p.(Pro372Leu)
?/. - c.1115C>T r.(?) p.(Pro372Leu)
-?/. - c.1130G>T r.(?) p.(Gly377Val)
-?/. - c.1136C>G r.(?) p.(Pro379Arg)
-?/. - c.1175C>T r.(?) p.(Ser392Phe)
-?/. - c.1177C>T r.(?) p.(Pro393Ser)
-?/. - c.1186A>G r.(?) p.(Thr396Ala)
-?/. - c.1196C>A r.(?) p.(Thr399Asn)
?/. - c.1210C>G r.(?) p.(Pro404Ala)
?/. - c.1234A>G r.(?) p.(Met412Val)
?/. - c.1234_1338del r.(?) p.(Met412_Pro446del)
?/. - c.1237A>C r.(?) p.(Thr413Pro)
?/. - c.1238C>G r.(?) p.(Thr413Ser)
?/. - c.1247T>C r.(?) p.(Phe416Ser)
-?/. - c.1272A>C r.(?) p.(Leu424Phe)
?/. - c.1292C>A r.(?) p.(Ala431Asp)
-?/. - c.1300G>A r.(?) p.(Ala434Thr)
-?/. - c.1340T>G r.(?) p.(Val447Gly)
-?/. - c.1358A>C r.(?) p.(Tyr453Ser)
?/. - c.1444G>C r.(?) p.(Val482Leu)
?/. - c.1445T>A r.(?) p.(Val482Glu)
-/. - c.1521G>C r.(?) p.(Glu507Asp)
-?/. - c.1601C>G r.(?) p.(Pro534Arg)
-?/. - c.1623C>G r.(?) p.(Asp541Glu)
-?/. - c.1629G>A r.(=) p.(=)
-?/. - c.1639T>C r.(?) p.(Tyr547His)
?/. - c.1666del r.(?) p.(Glu556ArgfsTer74)
?/. - c.1697A>G r.(?) p.(Gln566Arg)
-?/. - c.1697A>G r.(?) p.(Gln566Arg)
?/. - c.1947G>C r.(?) p.(Gln649His)
-?/. - c.2247C>T r.(?) p.(Ser749=)
?/. - c.2363C>T r.(?) p.(Ala788Val)
?/. - c.2458T>C r.(?) p.(Ser820Pro)
-?/. - c.2486C>T r.(?) p.(Ser829Phe)
-?/. - c.2519C>T r.(?) p.(Ser840Leu)
?/. - c.2522G>T r.(?) p.(Ser841Ile)
-?/. - c.2573T>C r.(?) p.(Phe858Ser)
-?/. - c.2714C>T r.(?) p.(Thr905Ile)
?/. - c.2749C>T r.(?) p.(Arg917Trp)
-?/. - c.2749C>T r.(?) p.(Arg917Trp)
-?/. - c.2963dup r.(?) p.(Ser989GlufsTer2)
-?/. - c.3024C>T r.(?) p.(Phe1008=)
?/. - c.3086G>A r.(?) p.(Arg1029His)
?/. - c.3107_3112del r.(?) p.(Ala1036_Phe1037del)
-?/. - c.3149A>C r.(?) p.(Gln1050Pro)
-?/. - c.3149A>C r.(?) p.(Gln1050Pro)
-?/. - c.3169C>T r.(?) p.(Arg1057Trp)
-?/. - c.3174G>A r.(=) p.(=)
?/. - c.3197G>A r.(?) p.(Arg1066His)
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