Transcript #00001547 (NM_152424.3, FAM123B gene)

Transcript name family with sequence similarity 123B
Gene name FAM123B (family with sequence similarity 123B)
Chromosome X
Transcript - NCBI ID NM_152424.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_689637.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

69 entries on 1 page. Showing entries 1 - 69.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.4G>A r.(?) p.(Glu2Lys)
-?/. - c.74C>T r.(?) p.(Ala25Val)
-?/. - c.85G>A r.(?) p.(Ala29Thr)
-/. - c.85G>A r.(?) p.(Ala29Thr)
?/. - c.185G>T r.(?) p.(Gly62Val)
-?/. - c.307G>A r.(?) p.(Ala103Thr)
-?/. - c.311A>G r.(?) p.(His104Arg)
?/. - c.311A>G r.(?) p.(His104Arg)
?/. - c.380T>C r.(?) p.(Phe127Ser)
-?/. - c.401A>C r.(?) p.(His134Pro)
-?/. - c.401A>C r.(?) p.(His134Pro)
-?/. - c.401A>C r.(?) p.(His134Pro)
-/. - c.477T>G r.(?) p.(Phe159Leu)
?/. - c.533G>A r.(?) p.(Arg178His)
+/. 2 c.555_556del r.(?) p.(Ala187*)
-?/. - c.614A>G r.(?) p.(His205Arg)
+?/. - c.664C>T r.(?) p.(Gln222Ter)
-?/. - c.670C>G r.(?) p.(Pro224Ala)
-?/. - c.742C>A r.(?) p.(Pro248Thr)
-?/. - c.790G>A r.(?) p.(Ala264Thr)
-?/. - c.790G>A r.(?) p.(Ala264Thr)
-?/. - c.790G>A r.(?) p.(Ala264Thr)
+/. - c.871G>T r.(?) p.(Glu291*)
-?/. - c.876G>C r.(?) p.(Lys292Asn)
?/. - c.898C>A r.(?) p.(Pro300Thr)
-?/. - c.918G>A r.(?) p.(Gly306=)
+/. - c.1057C>T r.(?) p.(Arg353Ter)
+/. - c.1072C>T r.(?) p.(Arg358Ter)
-?/. - c.1137C>A r.(?) p.(Asp379Glu)
+?/. - c.1147G>T r.(?) p.(Glu383Ter)
?/. - c.1153G>C r.(?) p.(Glu385Gln)
-?/. - c.1153G>C r.(?) p.(Glu385Gln)
?/. - c.1253G>A r.(?) p.(Arg418Gln)
-?/. - c.1283C>T r.(?) p.(Thr428Ile)
-?/. - c.1472G>A r.(?) p.(Arg491His)
?/. - c.1645C>T r.(?) p.(Arg549Trp)
?/. - c.1679G>A r.(?) p.(Arg560Gln)
-/. - c.1796A>G r.(?) p.(Tyr599Cys)
-?/. - c.1796A>G r.(?) p.(Tyr599Cys)
-?/. - c.1796A>G r.(?) p.(Tyr599Cys)
-?/. - c.1802G>A r.(?) p.(Arg601Gln)
-?/. - c.1802G>A r.(?) p.(Arg601Gln)
-?/. - c.1802G>A r.(?) p.(Arg601Gln)
-?/. - c.1833G>A r.(?) p.(Arg611=)
-?/. - c.1937G>A r.(?) p.(Arg646Gln)
-?/. - c.2074G>A r.(?) p.(Glu692Lys)
-?/. - c.2074G>C r.(?) p.(Glu692Gln)
-?/. - c.2133G>A r.(?) p.(Lys711=)
?/. - c.2175T>G r.(?) p.(Asp725Glu)
?/. - c.2175T>G r.(?) p.(Asp725Glu)
?/. - c.2275G>T r.(?) p.(Val759Phe)
?/. - c.2387T>A r.(?) p.(Phe796Tyr)
-?/. - c.2458G>A r.(?) p.(Gly820Ser)
?/. - c.2503G>C r.(?) p.(Ala835Pro)
-?/. - c.2651C>T r.(?) p.(Pro884Leu)
-?/. - c.2651C>T r.(?) p.(Pro884Leu)
-?/. - c.2651C>T r.(?) p.(Pro884Leu)
-?/. - c.2651C>T r.(?) p.(Pro884Leu)
-?/. - c.2660T>C r.(?) p.(Met887Thr)
-?/. - c.2825G>A r.(?) p.(Arg942Gln)
-/. - c.2970G>T r.(?) p.(Arg990Ser)
?/. - c.3007A>G r.(?) p.(Ile1003Val)
-?/. - c.3092G>A r.(?) p.(Gly1031Asp)
-?/. - c.3092G>A r.(?) p.(Gly1031Asp)
?/. - c.3173C>T r.(?) p.(Pro1058Leu)
-?/. - c.3273G>A r.(?) p.(Arg1091=)
-?/. - c.3408G>A r.(?) p.(Ter1136=)
-?/. - c.*413_*414del r.(?) p.(=)
-?/. 3 c.*3449_*3450del r.(=) p.(=)
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