Transcript #00014194 (NM_000261.1, MYOC gene)

Transcript name myocilin, trabecular meshwork inducible glucocorticoid response
Gene name MYOC (myocilin, trabecular meshwork inducible glucocorticoid response)
Chromosome 1
Transcript - NCBI ID NM_000261.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_000252.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

64 entries on 1 page. Showing entries 1 - 64.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. 1 c.26G>C r.(?) p.(Cys9Ser)
+?/. - c.136C>T r.(?) p.(Arg46*)
?/. - c.144G>T r.(?) p.(Gln48His)
+/. - c.158T>C r.(?) p.(Val53Ala)
+/. - c.172G>T r.(?) p.(Glu58Ter)
+?/. 1 c.227G>A r.(?) p.(Arg76Lys)
+/. - c.244C>T r.(?) p.(Arg82Cys)
-?/. - c.252C>T r.(?) p.(Asp84=)
+/. - c.271C>T r.(?) p.(Arg91Ter)
-?/. - c.366C>T r.(?) p.(Gly122=)
+?/. - c.472C>T r.(?) p.Arg158*
-?/. - c.644T>C r.(?) p.(Leu215Pro)
-?/. - c.767C>T r.(?) p.(Thr256Met)
?/. - c.815G>A r.(?) p.(Arg272Gln)
-/. - c.855G>T r.(?) p.(Thr285=)
+/. - c.878C>A r.(?) p.(Thr293Lys)
-?/. - c.878C>A r.(?) p.(Thr293Lys)
+/. - c.1021T>C r.(?) p.(Ser341Pro)
+/. - c.1021T>C r.(?) p.(Ser341Pro)
-?/. - c.1041T>C r.(=) p.(=)
-?/. - c.1041T>C r.(=) p.(=)
+/. - c.1041T>G r.(?) p.(Tyr347Ter)
?/. - c.1054G>A r.(?) p.(Glu352Lys)
?/. - c.1054G>A r.(?) p.(Glu352Lys)
?/. - c.1058C>T r.(?) p.(Thr353Ile)
+?/. - c.1058C>T r.(?) p.(Thr353Ile)
?/. 3 c.1091G>T r.(?) p.(Gly364Val)
+/. 3 c.1091G>T r.(?) p.(Gly364Val)
+/. 3 c.1091G>T r.(?) p.(Gly364Val)
?/. - c.1102C>T r.(?) p.(Gln368Ter)
?/. 3 c.1102C>T r.(?) p.(Gln368*)
+/. 3 c.1102C>T r.(?) p.(Gln368*)
+/. 3 c.1102C>T r.(?) p.(Gln368*)
+/. 3 c.1102C>T r.(?) p.(Gln368*)
+/. 3 c.1102C>T r.(?) p.(Gln368*)
+/. 3 c.1102C>T r.(?) p.(Gln368*)
+/. 3 c.1102C>T r.(?) p.(Gln368*)
+/. - c.1102C>T r.(?) p.(Gln368Ter)
+?/. - c.1102C>T r.(?) p.(Gln368*)
+/. - c.1109C>T r.(?) p.(Pro370Leu)
?/. 3 c.1109C>T r.(?) p.(Pro370Leu)
+/. 3 c.1109C>T r.(?) p.(Pro370Leu)
+/. 3 c.1109C>T r.(?) p.(Pro370Leu)
+/. 3 c.1109C>T r.(?) p.(Pro370Leu)
+/. - c.1130C>T r.(?) p.(Thr377Met)
+/. - c.1133A>G r.(?) p.(Asp378Gly)
+/. - c.1160G>A r.(?) p.(Gly387Asp)
+/. - c.1160G>A r.(?) p.(Gly387Asp)
-?/. - c.1193A>G r.(?) p.(Lys398Arg)
+/. - c.1196G>T r.(?) p.(Gly399Val)
+?/. - c.1288T>C r.(?) p.(Phe430Leu)
-?/. - c.1290C>T r.(?) p.(Phe430=)
?/. 3 c.1309T>C r.(?) p.(Tyr437His)
+/. 3 c.1309T>C r.(?) p.(Tyr437His)
+/. 3 c.1309T>C r.(?) p.(Tyr437His)
?/. - c.1310A>G r.(?) p.(Tyr437Cys)
-/. 3 c.1311C>T r.(=) p.(=)
?/. 3 c.1430T>G r.(?) p.(Ile477Ser)
+/. 3 c.1430T>G r.(?) p.(Ile477Ser)
+?/. - c.1432G>T r.(?) p.(Asp478Tyr)
?/. 3 c.1440C>A r.(?) p.(Asn480Lys)
+/. 3 c.1440C>A r.(?) p.(Asn480Lys)
+/. - c.1456C>T r.(?) p.(Leu486Phe)
?/. - c.1480_1487del r.(?) p.(Met494LeufsTer2)
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