Transcript #00014545 (NM_024782.2, NHEJ1 gene)

Transcript name nonhomologous end-joining factor 1
Gene name NHEJ1 (nonhomologous end-joining factor 1)
Chromosome 2
Transcript - NCBI ID NM_024782.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_079058.1
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

31 entries on 1 page. Showing entries 1 - 31.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-1626C>A r.(?) p.(=)
?/. - c.-1+6T>C r.(=) p.(=)
+?/. - c.11dup r.(?) p.?
-/. - c.40G>A r.(?) p.(Ala14Thr)
-?/. - c.57A>G r.(?) p.(Ala19=)
-?/. - c.57A>G r.(?) p.(Ala19=)
+/. 2 c.169C>G r.(?) p.(Arg57Gly)
+/. 2 c.169C>G r.(?) p.(Arg57Gly)
+/. 2i c.177+1_177+3delinsTT r.[177del, 55_177del,?] p.[Glu60Serfs*2,Ala19_Lys59del,?]
+/. 2i c.177+1_177+3delinsTT r.[177del, 55_177del,?] p.[Glu60Serfs*2,Ala19_Lys59del,?]
+/. - c.233dup r.(233dup) p.(Asn78LysfsTer14)
?/. - c.257A>T r.(?) p.(Asp86Val)
-?/. - c.258C>T r.(?) p.(Asp86=)
-?/. - c.263C>T r.(?) p.(Ala88Val)
+/. 3 c.367T>C r.(?) p.(Cys123Arg)
+?/. - c.390+1G>C r.spl? p.?
-/. - c.390+18G>A r.(=) p.(=)
+/. - c.413C>T r.(?) p.(Pro138Leu)
-?/. - c.451A>C r.(?) p.(Arg151=)
+/. - c.532C>T r.(?) p.(Arg178*)
+/. - c.532C>T r.(?) p.(Arg178*)
-?/. - c.560A>G r.(?) p.(Asn187Ser)
-?/. - c.560A>G r.(?) p.(Asn187Ser)
-?/. - c.569T>C r.(?) p.(Leu190Ser)
+/. - c.574C>T r.(?) p.(Gln192Ter)
-?/. - c.707-7A>T r.(=) p.(=)
-?/. - c.747C>T r.(?) p.(Ile249=)
-/. - c.767A>T r.(?) p.(Gln256Leu)
-/. - c.825+29G>A r.(=) p.(=)
-?/. - c.826-13C>T r.(=) p.(=)
-/. - c.*40C>T r.(=) p.(=)
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