Transcript #00017676 (NM_173560.3, RFX6 gene)

Transcript name regulatory factor X, 6
Gene name RFX6 (regulatory factor X, 6)
Chromosome 6
Transcript - NCBI ID NM_173560.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_775831.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

30 entries on 1 page. Showing entries 1 - 30.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.123G>A r.(?) p.(Pro41=)
-?/. - c.223G>C r.(?) p.(Glu75Gln)
+/. 1i c.224-12A>G r.spl? p.(=)
-/- 2 c.313T>G r.(?) p.(Ser105Ala)
+/+ 2i c.380+2T>C r.spl? p.?
+/+ 4 c.541C>T r.(?) p.(Arg181Trp)
+/+ 4 c.542G>A r.(?) p.(Arg181Gln)
+/+ 6 c.649T>C r.(?) p.(Ser217Pro)
+/+ 6i c.672+2T>G r.spl p.?
+/+ 7_7i c.777_780+11del r.spl p.?
+/+ 7 c.779A>C r.(?) p.(Lys260Thr)
+/+ 7i_8 c.781-2_787delinsG r.spl? p.?
+/+ 11 c.1154G>A r.(?) p.(Arg385Gln)
+/+ 11 c.1154G>A r.(?) p.(Arg385Gln)
+/+ 11 c.1154G>A r.(?) p.(Arg385Gln)
+/+ 12 c.1316_1319del r.(?) p.(Ile439Thrfs*13)
+/+ 12 c.1316_1319del r.(?) p.(Ile439Thrfs*13)
?/. - c.1375A>T r.(?) p.(Asn459Tyr)
+/+ 14 c.1517T>G r.(?) p.(Val506Gly)
-?/. - c.1638G>A r.(?) p.(Gln546=)
?/. - c.1733G>C r.(?) p.(Arg578Pro)
?/. - c.1733G>C r.(?) p.(Arg578Pro)
-?/. - c.2039C>A r.(?) p.(Thr680Lys)
+/+ 17 c.2176C>T r.(?) p.(Arg726*)
-?/. - c.2369G>A r.(?) p.(Gly790Glu)
-?/. - c.2398+8T>C r.(=) p.(=)
?/. - c.2399G>C r.(?) p.(Gly800Ala)
?/. - c.2399G>C r.(?) p.(Gly800Ala)
?/. - c.2534A>G r.(?) p.(Asp845Gly)
+/+ 18 c.2596C>T r.(?) p.(Arg866*)
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