Transcript #00002823 (NM_015318.3, ARHGEF18 gene)

Transcript name transcript variant 1
Gene name ARHGEF18 (Rho/Rac guanine nucleotide exchange factor (GEF) 18)
Chromosome 19
Transcript - NCBI ID NM_015318.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_056133.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -
Date created 0000-00-00 00:00:00 +00:19 (LMT)
Date last edited N/A


Variants

87 entries on 1 page. Showing entries 1 - 87.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-22489C>T r.(?) p.(=)
?/. - c.-22477A>C r.(?) p.(=)
-?/. - c.-22251G>A r.(?) p.(=)
?/. - c.-18637G>A r.(?) p.(=)
?/. - c.-12444T>C r.(?) p.(=)
?/. - c.-12444T>C r.(?) p.(=)
-?/. - c.-71-359T>A r.(=) p.(=)
-?/. - c.-71-290C>A r.(=) p.(=)
-?/. - c.-71-273C>G r.(=) p.(=)
+?/. - c.-71-61G>A r.(?) p.(=)
?/. - c.-71-61G>A r.(=) p.(=)
?/. - c.-71-45C>T r.(=) p.(=)
?/. - c.-33G>T r.(?) p.(=)
?/. - c.32C>A r.(?) p.(Pro11Gln)
?/. - c.67G>A r.(?) p.(Gly23Arg)
-?/. - c.67G>A r.(?) p.(Gly23Arg)
-?/. - c.162C>T r.(?) p.(Thr54=)
-?/. - c.181+14C>T r.(=) p.(=)
-?/. - c.184C>T r.(?) p.(Pro62Ser)
-?/. - c.184C>T r.(?) p.(Pro62Ser)
-?/. - c.240T>C r.(?) p.(Ala80=)
-?/. - c.320A>T r.(?) p.(Tyr107Phe)
-?/. - c.322+20G>A r.(=) p.(=)
+/. - c.334A>G r.(?) p.(Thr112Ala)
+?/. - c.334A>G r.(?) p.(Thr112Ala)
-/. - c.348C>T r.(?) p.(His116=)
?/. - c.353G>A r.(?) p.(Arg118Gln)
?/. - c.565G>A r.(?) p.(Val189Ile)
?/. - c.565G>A r.(?) p.(Val189Ile)
?/. - c.661C>G r.(?) p.(Leu221Val)
-/. - c.699+21dup r.(=) p.(=)
-/. - c.700-11C>G r.(=) p.(=)
?/. - c.711C>G r.(?) p.(Asn237Lys)
+?/. - c.736G>A r.(?) p.(Val246Met)
?/. - c.812C>T r.(?) p.(Thr271Met)
?/. - c.934G>A r.(?) p.(Ala312Thr)
?/. - c.989G>A r.(?) p.(Arg330His)
?/. - c.1049C>T r.(?) p.(Thr350Ile)
-?/. - c.1128C>T r.(?) p.(Tyr376=)
+/. - c.1143+5G>A r.[1067_1143del,=] p.[Asp356Gly*37,=]
?/. - c.1251G>A r.(?) p.(Met417Ile)
?/. - c.1414+4A>T r.spl? p.?
-?/. - c.1414+7G>A r.(=) p.(=)
+/. - c.1415-1G>A r.spl? p.?
-?/. - c.1482G>A r.(?) p.(Glu494=)
-/. - c.1482G>A r.(?) p.(Glu494=)
-?/. - c.1503C>G r.(?) p.(Leu501=)
+/. - c.1522C>T r.(?) p.(Arg508*)
+?/. - c.1522C>T r.(?) p.(Arg508*)
-?/. - c.1572A>G r.(?) p.(Leu524=)
-?/. - c.1572A>G r.(?) p.(Leu524=)
-?/. - c.1584G>A r.(?) p.(=)
-?/. - c.1593C>T r.(?) p.(Ser531=)
-/. - c.1638C>T r.(?) p.(Ser546=)
-?/. - c.1644C>T r.(?) p.(Asn548=)
-?/. - c.1652C>T r.(?) p.(Ala551Val)
-/. - c.1671C>T r.(?) p.(Ser557=)
-/. - c.1806C>T r.(?) p.(Ser602=)
+?/. - c.1867-1G>T r.spl? p.?
?/. - c.1919C>T r.(?) p.(Ser640Leu)
-?/. - c.1919C>T r.(?) p.(Ser640Leu)
-?/. - c.2080C>A r.(?) p.(Gln694Lys)
-?/. - c.2130G>C r.(?) p.(Leu710=)
-/. - c.2130G>C r.(?) p.(Leu710=)
+/. - c.2158G>T r.2158g>u p.Glu720*
+?/. - c.2158G>T r.(?) p.(Glu720*)
+/. - c.2264_2287del r.2264_2287del p.Arg755_Glu762del
+?/. - c.2264_2287del r.(?) p.(Arg755_Glu762del)
-?/. - c.2283C>G r.(?) p.(Ala761=)
-?/. - c.2289G>T r.(?) p.(Leu763=)
?/. - c.2316C>G r.(?) p.(His772Gln)
-?/. - c.2518G>A r.(?) p.(Gly840Ser)
?/. - c.2518G>A r.(?) p.(Gly840Ser)
?/. - c.2543G>A r.(?) p.(Arg848His)
?/. - c.2561G>A r.(?) p.(Arg854Gln)
-?/. - c.2623G>A r.(?) p.(Ala875Thr)
-?/. - c.2623G>A r.(?) p.(Ala875Thr)
-?/. - c.2713G>A r.(?) p.(Gly905Ser)
-?/. - c.2745C>T r.(?) p.(Ser915=)
-?/. - c.2745C>T r.(?) p.(Ser915=)
?/. - c.2810C>A r.(?) p.(Thr937Asn)
?/. - c.2822G>A r.(?) p.(Arg941His)
?/. - c.2824C>T r.(?) p.(Arg942Cys)
-?/. - c.2943C>T r.(?) p.(Ala981=)
-?/. - c.2944G>A r.(?) p.(Gly982Arg)
?/. - c.2944G>A r.(?) p.(Gly982Arg)
-?/. - c.2970C>G r.(?) p.(Pro990=)
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