Transcript #00000548 (NM_006521.4, TFE3 gene)

Transcript name transcription factor binding to IGHM enhancer 3
Gene name TFE3 (transcription factor binding to IGHM enhancer 3)
Chromosome X
Transcript - NCBI ID NM_006521.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_006512.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

46 entries on 1 page. Showing entries 1 - 46.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-148A>C r.(?) p.(=)
-/. - c.26G>C r.(?) p.(Arg9Pro)
-?/. - c.26G>C r.(?) p.(Arg9Pro)
?/. - c.117-88G>C r.(=) p.(=)
?/. - c.117-88G>C r.(=) p.(=)
+/. - c.350G>A r.(?) p.(Arg117Gln)
+/. - c.350G>A r.(?) p.(Arg117Gln)
+/. - c.350G>A r.(?) p.(Arg117Gln)
+/. - c.350G>A r.(?) p.(Arg117Gln)
+/. - c.350G>A r.(?) p.(Arg117Gln)
+/. - c.356A>C r.(?) p.(Gln119Pro)
-?/. - c.375G>C r.(?) p.(Ala125=)
-?/. - c.415G>A r.(?) p.(Ala139Thr)
?/. - c.416C>T r.(?) p.(Ala139Val)
-?/. - c.468C>T r.(?) p.(Gly156=)
+/. - c.551A>G r.(?) p.(Glu184Gly)
+/. - c.557C>T r.(?) p.(Pro186Leu)
+/. - c.559A>C r.(?) p.(Thr187Pro)
+/. - c.560C>A r.(?) p.(Thr187Lys)
+?/. - c.560C>G r.(?) p.(Thr187Arg)
+/. - c.560C>G r.(?) p.(Thr187Arg)
+/. - c.560C>T r.(?) p.(Thr187Met)
+/. - c.560C>T r.(?) p.(Thr187Met)
+/. - c.560C>T r.(?) p.(Thr187Met)
+/. - c.566A>G r.(?) p.(Tyr189Cys)
+/. - c.570C>G r.(?) p.(His190Gln)
+/. - c.572T>C r.(?) p.(Leu191Pro)
+/. - c.572T>C r.(?) p.(Leu191Pro)
+/. - c.602A>C r.(?) p.(Gln201Pro)
-?/. - c.667G>A r.(?) p.(Ala223Thr)
+/. - c.780+1G>A r.spl p.?
+/. - c.780+1G>A r.spl p.?
-?/. - c.1089C>T r.(?) p.(Asn363=)
?/. - c.1323A>G r.(=) p.(=)
-/. - c.1323A>G r.(?) p.(Val441=)
-?/. - c.1408G>A r.(?) p.(Gly470Ser)
-?/. - c.1439G>A r.(?) p.(Gly480Glu)
-/. - c.1439G>C r.(?) p.(Gly480Ala)
?/. - c.1450G>A r.(?) p.(Ala484Thr)
-?/. - c.1451C>T r.(?) p.(Ala484Val)
-?/. - c.1484C>T r.(?) p.(Pro495Leu)
?/. - c.1522G>A r.(?) p.(Asp508Asn)
-?/. - c.1592G>A r.(?) p.(Gly531Glu)
-?/. - c.1610C>T r.(?) p.(Ser537Leu)
-?/. - c.1629A>G r.(?) p.(Pro543=)
-?/. - c.1673C>T r.(?) p.(Ala558Val)
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