Transcript #00011554 (NM_003573.2, LTBP4 gene)

Transcript name transcript variant 2
Gene name LTBP4 (latent transforming growth factor beta binding protein 4)
Chromosome 19
Transcript - NCBI ID NM_003573.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_003564.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

61 entries on 1 page. Showing entries 1 - 61.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.340+1345C>T r.(=) p.(=)
-/. - c.469G>A r.(?) p.(Val157Ile)
-/. - c.469G>A r.(?) p.(Val157Ile)
-?/. - c.582G>C r.(?) p.(Ser194=)
+/. - c.780+2T>G r.spl p.?
-?/. - c.981C>T r.(?) p.(Gly327=)
+/. - c.1263del r.(?) p.(Cys422Alafs*352)
?/. - c.1276C>G r.(?) p.(Pro426Ala)
-?/. - c.1307G>A r.(?) p.(Arg436His)
-/. - c.1328G>A r.(?) p.(Gly443Asp)
+/. - c.1342C>T r.(?) p.(Arg448*)
-/. - c.1390T>A r.(?) p.(Ser464Thr)
?/. - c.1414C>T r.(?) p.(Arg472Cys)
?/. 12 c.1415G>A r.(1415g>a) P.(Arg472His)
+/. - c.1450del r.(?) p.(Arg484Glyfs*290)
-?/. - c.1517-8C>A r.(=) p.(=)
-/. - c.1792C>G r.(?) p.(Arg598Gly)
?/. - c.1838G>A r.(?) p.(Gly613Asp)
+/. - c.1851C>A r.(?) p.(Cys617*)
-/. - c.2058C>T r.(?) p.(Pro686=)
-?/. - c.2143G>A r.(?) p.(Asp715Asn)
-/. - c.2144-11C>A r.(=) p.(=)
-/. - c.2248A>G r.(?) p.(Thr750Ala)
-/. - c.2248A>G r.(?) p.(Thr750Ala)
-?/. - c.2329G>A r.(?) p.(Gly777Ser)
-/. - c.2347A>G r.(?) p.(Thr783Ala)
-/. - c.2347A>G r.(?) p.(Thr783Ala)
+/. - c.2408C>A r.(?) p.(Ser803*)
-/. - c.2655C>T r.(?) p.(Asp885=)
?/. - c.2837G>A r.(?) p.(Gly946Asp)
-/. - c.2902+6C>T r.(=) p.(=)
-?/. - c.2902+6C>T r.(=) p.(=)
?/. - c.2989G>C r.(?) p.(Ala997Pro)
-/. - c.3122_3124= r.(=) p.(Gln1041=)
-/. - c.3122_3124= r.(=) p.(Gln1041=)
-?/. - c.3218C>T - -
-/. - c.3311C>T r.(?) p.(Thr1104Met)
-/. - c.3311C>T r.(?) p.(Thr1104Met)
-/. - c.3416G>A - p.?
-/. - c.3416G>A - p.?
-/. - c.3417G>A r.(?) p.(Val1139=)
+/. - c.3556T>C r.(?) p.(Cys1186Arg)
+/. - c.3661C>T r.(?) p(.Gln1221*)
-?/. - c.3663G>A r.(?) p.(Gln1221=)
-/. - c.3777C>T r.(?) p.(Asp1259=)
-/. - c.3777C>T r.(?) p.(Asp1259=)
+/. - c.3886C>T r.(?) p.(Gln1296*)
-?/. - c.3922+8C>T r.(=) p.(=)
-?/. - c.4017C>T r.(?) p.(Cys1339=)
+/. - c.4051_4052dup r.(?) p.(Leu1352ProfsTer41)
+/. - c.4115dup r.(?) p.(Tyr1373IlefsTer2)
+/. - c.4127dup r.(?) p.(Arg1377Alafs*27)
+/. - c.4129C>T r.(?) p.(Arg1377*)
?/. - c.4201G>A r.(?) p.(Gly1401Arg)
-?/. - c.4387A>T - p.?
-/. - c.4388A>T r.(?) p.(Tyr1463Phe)
-/. - c.4456+8C>T r.(=) p.(=)
-/. - c.4499C>T - p.?
-?/. - c.4606G>C r.(?) p.(Val1536Leu)
-/. - c.4610-18G>C r.(=) p.(=)
-?/. - c.4747G>A r.(?) p.(Ala1583Thr)
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