Transcript #00000248 (NM_016648.2, LARP7 gene)

Transcript name transcript variant 1
Gene name LARP7 (La ribonucleoprotein domain family, member 7)
Chromosome 4
Transcript - NCBI ID NM_016648.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_057732.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

27 entries on 1 page. Showing entries 1 - 27.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.65_67del r.(?) p.(Glu22del)
-?/. - c.320C>T r.(?) p.(Thr107Ile)
-?/. - c.647-8T>C r.(=) p.(=)
-?/. - c.651G>C r.(?) p.(Glu217Asp)
?/. - c.680G>A r.(?) p.(Arg227Gln)
+/. - c.697_698del r.(?) p.(Asn233Tyrfs*17)
?/. - c.715_717del r.(?) p.(Glu239del)
?/. - c.715_717del r.(?) p.(Glu239del)
-?/. - c.770C>A r.(?) p.(Thr257Lys)
+/. - c.782_783del r.(?) p.(Ser261Ter)
+/. - c.832A>T r.(?) p.(Lys278*)
?/. - c.842_852del r.(?) p.(Arg281IlefsTer2)
?/. - c.919G>A r.(?) p.(Ala307Thr)
+/. - c.925C>T r.(?) p.(Arg309Ter)
-?/. - c.978A>T r.(?) p.(Glu326Asp)
?/. - c.998-1G>A r.spl? p.?
-?/. - c.1001T>C r.(?) p.(Ile334Thr)
-?/. - c.1013C>T r.(?) p.(Thr338Ile)
+/. - c.1024_1030dup r.(?) p.(Thr344Lysfs*9)
+/? 8 c.1024_1030dup r.1024_1030dup p.Thr344Lysfs*9
+/. - c.1068_1069del r.(?) p.(Arg357GlufsTer3)
+?/. - c.1091_1094del r.(?) p.(Lys364Argfs*12)
+?/. - c.1092_1094del r.(?) p.(Glu365del)
+/. - c.1173T>A r.(?) p.(Tyr391Ter)
?/. - c.1468G>A r.(?) p.(Asp490Asn)
-?/. - c.1576+17G>A r.(=) p.(=)
+/. - c.1689+1G>C r.spl p.?
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