Transcript #00000770 (NM_004840.2, ARHGEF6 gene)

Transcript name Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
Gene name ARHGEF6 (Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6)
Chromosome X
Transcript - NCBI ID NM_004840.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_004831.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

53 entries on 1 page. Showing entries 1 - 53.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.166-11T>C r.(=) p.(=)
-?/. - c.169T>C r.(?) p.(Cys57Arg)
?/. - c.250-95_250-93dup r.(=) p.(=)
?/. - c.250-93dup r.(=) p.(=)
?/. - c.250-93dup r.(=) p.(=)
-?/. - c.250-4A>G r.spl? p.?
-?/. - c.262G>C r.(?) p.(Asp88His)
?/. - c.293A>C r.(?) p.(Lys98Thr)
-?/. - c.362G>A r.(?) p.(Arg121His)
?/. - c.362G>A r.(?) p.(Arg121His)
-/. - c.362G>A r.(?) p.(Arg121His)
-/. - c.362G>A r.(?) p.(Arg121His)
-?/. - c.362G>A r.(?) p.(Arg121His)
?/. - c.451_452del r.(?) p.(Lys151AspfsTer21)
-/. - c.540A>G r.(?) p.(Ser180=)
?/. - c.553G>A r.(?) p.(Asp185Asn)
?/. - c.571C>T r.(?) p.(Arg191Ter)
-?/. - c.684C>T r.(?) p.(Ala228=)
-?/. - c.685G>A r.(?) p.(Val229Ile)
-?/. - c.685G>A r.(?) p.(Val229Ile)
-?/. - c.745A>G r.(?) p.(Ile249Val)
+?/. - c.801C>A r.(?) p.(Tyr267Ter)
-?/. - c.891G>T r.(?) p.(Gln297His)
-/. - c.891G>T r.(?) p.(Gln297His)
?/. - c.992A>G r.(?) p.(Tyr331Cys)
?/. - c.992A>G r.(?) p.(Tyr331Cys)
+?/. - c.1170A>C r.(?) p.(Leu390Phe)
-?/. - c.1190C>G r.(?) p.(Thr397Ser)
?/. - c.1223T>C r.(?) p.(Ile408Thr)
-?/. - c.1385C>T r.(?) p.(Ala462Val)
?/. - c.1392+72dup r.(=) p.(=)
?/. - c.1392+72dup r.(=) p.(=)
?/. - c.1392+73del r.(=) p.(=)
-?/. - c.1406G>A r.(?) p.(Arg469Gln)
?/. - c.1480-3T>C r.spl? p.?
-/. - c.1480-3T>C r.spl? p.?
-?/. - c.1503G>A r.(?) p.(Thr501=)
?/. - c.1574G>C r.(?) p.(Arg525Thr)
?/. - c.1720G>A r.(?) p.(Gly574Arg)
?/. - c.1730G>A r.(?) p.(Arg577Gln)
?/. - c.1736C>A r.(?) p.(Pro579His)
?/. - c.1946-400G>A r.(=) p.(=)
-?/. - c.2001C>T r.(?) p.(Cys667=)
?/. - c.2003C>G r.(?) p.(Thr668Ser)
-?/. - c.2062G>A r.(?) p.(Val688Ile)
?/. - c.2089A>G r.(?) p.(Ile697Val)
?/. - c.2093T>C r.(?) p.(Ile698Thr)
?/. - c.2093T>C r.(?) p.(Ile698Thr)
-?/. - c.2112C>T r.(?) p.(Asn704=)
-?/. - c.2145T>C r.(?) p.(Val715=)
?/. - c.2191-367_2191-365del r.(=) p.(=)
-?/. - c.2215C>A r.(?) p.(Leu739Met)
-?/. - c.2229G>C r.(?) p.(Leu743=)
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