Transcript #00011748 (NM_005921.1, MAP3K1 gene)

Transcript name mitogen-activated protein kinase kinase kinase 1
Gene name MAP3K1 (mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase)
Chromosome 5
Transcript - NCBI ID NM_005921.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_005912.1
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

90 entries on 1 page. Showing entries 1 - 90.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.14_16dup r.(?) p.(Ala5dup)
-?/. - c.14_16dup r.(?) p.(Ala5dup)
+?/. 1 c.14_16dup r.(?) p.(Ala5dup)
-?/. - c.15G>A r.(?) p.(Ala5=)
-?/. - c.25G>A r.(?) p.(Ala9Thr)
?/. - c.35C>T r.(?) p.(Ser12Leu)
+?/. - c.152G>C r.(?) p.(Gly51Ala)
?/. - c.185T>G r.(?) p.(Leu62Arg)
-?/. - c.216G>C r.(?) p.(Gln72His)
-?/. - c.241G>T r.(?) p.(Ala81Ser)
?/. - c.242C>T r.(?) p.(Ala81Val)
-?/. - c.347C>G r.(?) p.(Ala116Gly)
-/. - c.351G>C r.(?) p.(Ala117=)
-/. - c.351G>C r.(?) p.(Ala117=)
?/. 1 c.394G>C r.(?) p.(Asp132His)
?/. - c.400G>A r.(?) p.(Gly134Ser)
-?/. - c.458C>A r.(?) p.(Pro153Gln)
-?/. - c.458C>T r.(?) p.(Pro153Leu)
+?/. 1 c.458C>T r.(?) p.Pro153Leu
-?/. - c.458C>T r.(?) p.(Pro153Leu)
-/. - c.483-11C>A r.(=) p.(=)
-/. - c.483-11C>A r.(=) p.(=)
+?/. 2 c.566T>A r.(?) p.(Leu189Gln)
+?/. 2 c.566T>C r.(?) p.(Leu189Pro)
+?/. 2 c.566T>G r.(?) p.(Leu189Arg)
+/. 2 c.566T>G r.(?) p.(Leu189Arg)
+/. 2 c.566T>G r.(?) p.(Leu189Arg)
+/. 2i c.634-8T>A r.633_634ins634-6_634-1 p.Val211_Val212insIleGln
?/. 3 c.710A>G r.(?) p.(Gln237Arg)
-?/. - c.720G>A r.(?) p.(Ala240=)
-?/. - c.720G>A r.(?) p.(Ala240=)
?/. - c.757C>T r.(?) p.(Pro253Ser)
-?/. - c.764A>G r.(?) p.(Asn255Ser)
-/. - c.764A>G r.(?) p.(Asn255Ser)
+?/. 3 c.770C>T r.(?) p.(Pro257Leu)
+/. - c.914del r.(?) p.(Asn305ThrfsTer7)
?/. - c.917G>A r.(?) p.(Arg306His)
+?/. 4 c.934A>T r.(?) p.(Met312Leu)
+?/. 4 c.934A>T r.(?) p.(Met312Leu)
+?/. 4 c.934A>T r.(?) p.(Met312Leu)
+?/. 4 c.934A>T r.(?) p.(Met312Leu)
+?/. 4 c.1016G>A r.(?) p.(Arg339Gln)
-/. - c.1284G>A r.(?) p.(Thr428=)
-/. - c.1284G>A r.(?) p.(Thr428=)
-/. - c.1284G>A r.(?) p.(Thr428=)
-/. - c.1566C>T r.(?) p.(Thr522=)
-/. - c.1566C>T r.(=) p.(=)
-/. - c.1566C>T r.(=) p.(=)
-?/. - c.1566C>T r.(?) p.(Thr522=)
+?/. 10 c.1760T>A r.(?) p.(Leu587His)
-?/. - c.1846G>A r.(?) p.(Gly616Arg)
+/. 10 c.1846G>A r.(?) p.(Gly616Arg)
+/. 10 c.1846G>A r.(?) p.(Gly616Arg)
+/. 10 c.1846G>A r.(?) p.(Gly616Arg)
+?/. 11 c.2071T>C r.(?) p.(Cys691Arg)
+/. 12i c.2180-2A>G r.[2180_2284del, 2180_2369del] p.[Gly727_Ile761del, Ser728Ilefs*8]
+/. - c.2185_2209dup r.(?) p.(Val737AspfsTer7)
+?/. 13 c.2291T>G r.(?) p.(Leu764Arg)
-/. - c.2370-28T>C r.(=) p.(=)
-/. - c.2416G>A r.(?) p.(Asp806Asn)
-/. - c.2416G>A r.(?) p.(Asp806Asn)
-/. - c.2716G>A r.(?) p.(Val906Ile)
-/. - c.2716G>A r.(?) p.(Val906Ile)
-?/. - c.2816C>G r.(?) p.(Ser939Cys)
-/. - c.2816C>G r.(?) p.(Ser939Cys)
-?/. - c.2836_2847del r.(?) p.(Thr946_Thr949del)
?/. - c.2842_2847del r.(?) p.(Thr948_Thr949del)
-/. - c.2845_2847del r.(?) p.(Thr949del)
-/. - c.2845_2847del r.(?) p.(Thr949del)
?/. - c.2845_2847del r.(?) p.(Thr949del)
-/. - c.2845_2847del r.(?) p.(Thr949del)
-?/. - c.2845_2847dup r.(?) p.(Thr949dup)
?/. - c.2965_2967del r.(?) p.(Ser989del)
-/. - c.3084A>G r.(?) p.(Gln1028=)
-/. - c.3190A>C r.(?) p.(Arg1064=)
-/. - c.3190A>C r.(?) p.(Arg1064=)
-?/. - c.3242T>A r.(?) p.(Met1081Lys)
-?/. - c.3272G>A r.(?) p.(Cys1091Tyr)
?/. - c.3317T>C r.(?) p.(Ile1106Thr)
-?/. - c.3560A>C r.(?) p.(Glu1187Ala)
?/. - c.3560_3562del r.(?) p.(Glu1187del)
-/. - c.3667-13G>A r.(=) p.(=)
-/. - c.3820-11A>G r.(=) p.(=)
?/. - c.3820-6A>T r.(=) p.(=)
-?/. - c.4091A>G r.(?) p.(Gln1364Arg)
./. - c.4151dup r.(?) p.(Arg1385Lysfs*35)
?/. - c.4241C>G r.(?) p.(Ala1414Gly)
-?/. - c.4328C>T r.(?) p.(Ala1443Val)
+?/. 19 c.4328C>T r.(?) p.(Ala1443Val)
+?/. 19 c.4328C>T r.(?) p.(Ala1443Val)
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