Transcript #00021156 (NM_001099274.1, TINF2 gene)

Transcript name transcript variant 1
Gene name TINF2 (TERF1 (TRF1)-interacting nuclear factor 2)
Chromosome 14
Transcript - NCBI ID NM_001099274.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001092744.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

67 entries on 1 page. Showing entries 1 - 67.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.28G>T r.(?) p.(Ala10Ser)
?/. - c.38G>T r.(?) p.(Arg13Leu)
-?/. - c.74G>C r.(?) p.(Gly25Ala)
-/. - c.74G>C r.(?) p.(Gly25Ala)
-?/. - c.74G>C r.(?) p.(Gly25Ala)
-?/. - c.193-7C>G r.(=) p.(=)
-?/. - c.315G>A r.(?) p.(Arg105=)
-?/. - c.363G>C r.(?) p.(Leu121=)
?/. - c.464T>C r.(?) p.(Leu155Ser)
+/. - c.557del r.(?) p.(Ser186PhefsTer24)
-?/. - c.578G>C r.(?) p.(Gly193Ala)
+?/. - c.604G>C r.(?) p.(Glu202Gln)
?/. - c.604G>C r.(?) p.(Glu202Gln)
+?/. - c.604G>C r.(?) p.(Glu202Gln)
+/. 6 c.640C>T r.(?) p.(Pro214Ser)
+/. 6 c.706C>T r.(?) p.(Pro236Ser)
-?/. - c.723T>A r.(?) p.(Pro241=)
-?/. - c.734C>A r.(?) p.(Ser245Tyr)
+/. 6 c.734C>A r.(?) p.(Ser245Tyr)
?/. - c.734C>A r.(?) p.(Ser245Tyr)
-?/. - c.771C>T r.(?) p.(His257=)
+/. 6 c.805C>T r.(?) p.(Gln269*)
+/. 6 c.805C>T r.(?) p.(Gln269*)
+/. 6 c.811C>T r.(?) p.(Gln271*)
-?/. - c.819C>T r.(?) p.(Ala273=)
-?/. - c.819C>T r.(?) p.(Ala273=)
+/. 6 c.826del r.(?) p.(Arg276Glyfs*41)
+/. 6 c.838A>G r.(?) p.(Lys280Glu)
+/. 6 c.838A>T r.(?) p.(Lys280*)
+/. 6 c.839del r.(?) p.(Lys280ArgfsTer37)
+/. 6 c.841G>A r.(?) p.(Glu281Lys)
+/. 6 c.844C>A r.(?) p.(Arg282Ser)
+?/. - c.844C>T r.(?) p.(Arg282Cys)
+/. 6 c.844C>T r.(?) p.(Arg282Cys)
+?/. - c.845G>A r.(?) p.(Arg282His)
+/. - c.845G>A r.(?) p.(Arg282His)
+/. 6 c.845G>A r.(?) p.(Arg282His)
+/. 6 c.847C>G r.(?) p.(Pro283Ala)
+?/. - c.847C>T r.(?) p.(Pro283Ser)
+/. 6 c.847C>T r.(?) p.(Pro283Ser)
+/. 6 c.848C>A r.(?) p.(Pro283His)
+/. 6 c.849del r.(?) p.(Thr284Glnfs*33)
+/. 6 c.849dup r.(?) p.(Thr284Hisfs*8)
+/. 6 c.850A>G r.(?) p.(Thr284Ala)
+/. 6 c.851C>A r.(?) p.(Thr284Lys)
+/. 6 c.851C>G r.(?) p.(Thr284Arg)
+/. 6 c.857delinsGC r.(?) p.(Met286Serfs*5)
?/. - c.858G>C r.(?) p.(Met286Ile)
+?/. - c.860T>C r.(?) p.(Leu287Pro)
+/. 6 c.860T>C r.(?) p.(Leu287Pro)
+/. 6 c.865_866delinsAG r.(?) p.(Pro289Ser)
+/. 6 c.867dup r.(?) p.(Phe290Leufs*2)
+/. 6 c.871A>G r.(?) p.(Arg291Gly)
+/. 6 c.892del r.(?) p.(Gln298Argfs*19)
-?/. - c.913A>G r.(?) p.(Ser305Gly)
-?/. - c.1092G>A r.(?) p.(Leu364=)
-?/. - c.1092G>A r.(?) p.(Leu364=)
-?/. - c.1166T>C r.(?) p.(Ile389Thr)
?/. - c.1166T>C r.(?) p.(Ile389Thr)
?/. - c.1216G>A r.(?) p.(Gly406Arg)
-?/. - c.1284C>T r.(?) p.(Tyr428=)
-?/. - c.1300C>T r.(?) p.(His434Tyr)
-?/. - c.1302C>T r.(?) p.(His434=)
-?/. - c.1309A>G r.(?) p.(Ile437Val)
-?/. - c.1312C>G r.(?) p.(Pro438Ala)
?/. - c.1312C>G r.(?) p.(Pro438Ala)
-?/. - c.*3680G>A r.(=) p.(=)
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