Transcript #00018860

Transcript name SH3 domain and tetratricopeptide repeats 2
Gene name SH3TC2 (SH3 domain and tetratricopeptide repeats 2)
Chromosome 5
Transcript - NCBI ID NM_024577.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_078853.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

193 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-110C>T r.(?) p.(=)
+/. 1 c.28del r.(?) p.(Glu10Serfs*4)
+?/. - c.43del r.(?) p.(Arg15GlyfsTer19)
?/. - c.52G>A r.(?) p.(Gly18Ser)
?/. - c.79A>G r.(?) p.(Thr27Ala)
-?/. - c.79A>G r.(?) p.(Thr27Ala)
?/. - c.152-64T>C r.(=) p.(=)
+?/. - c.152-7_152-4del r.(?) p.(?)
?/. - c.164C>T r.(?) p.(Ser55Phe)
+/. - c.211C>T r.(?) p.(Gln71*)
+/. 3 c.217_227delinsCCAGTAA r.(?) p.(Ala73Profs*55)
?/. - c.233_239del r.(?) p.(Leu78HisfsTer49)
+?/. - c.279G>A r.(?) p.(Lys93=)
+?/. - c.279G>A r.(?) p.(Lys93=)
+?/. - c.287C>T r.(?) p.(Ser96Leu)
-?/. - c.385+4_385+8del r.spl? p.?
-/. - c.477T>A r.(?) p.(Ser159=)
?/. - c.505T>C r.(?) p.(Tyr169His)
-?/. - c.505T>C r.(?) p.(Tyr169His)
+/. - c.505T>C r.(?) p.(Tyr169His)
+/. - c.505T>C r.(?) p.(Tyr169His)
?/. - c.505T>C r.(?) p.(Tyr169His)
?/. - c.505T>C r.(?) p.Tyr169His
+/. 5 c.505T>C r.(?) p.(Tyr169His)
?/. - c.505T>C r.(?) p.(Tyr169His)
?/. - c.505T>C r.(?) p.(Tyr169His)
-/. - c.512G>A r.(?) p.(Gly171Glu)
?/. - c.517C>A r.(?) p.(Leu173Met)
+/. - c.530-2A>G r.spl? p.?
+/. 5i c.530-2A>T r.spl p.?
+/. - c.543C>A r.(?) p.(Cys181Ter)
+/. 6 c.596C>T r.(?) p.(Thr199Ile)
-/. - c.645C>T r.(=) p.(=)
-/. - c.645C>T r.(?) p.(Ser215=)
?/. - c.646G>A r.(?) p.(Glu216Lys)
+/. 6 c.680G>A r.(?) p.(Arg227Gln)
?/. - c.689T>C r.(?) p.(Val230Ala)
+?/. - c.819dup r.(?) p.(Lys274Ter)
?/. - c.894C>T r.(=) p.(=)
+/. - c.920G>A r.(?) p.(Trp307Ter)
+/. 8 c.920G>A r.(?) p.(Trp307*)
?/. - c.925A>G r.(?) p.(Ile309Val)
-?/. - c.1002-12G>T r.(=) p.(=)
?/. - c.1096A>G r.(?) p.(Thr366Ala)
-?/. - c.1177+10G>A r.(=) p.(=)
+/. - c.1178-1G>A r.spl? p.?
-/. - c.1194T>C r.(?) p.(Gly398=)
-/. - c.1194T>C r.(?) p.(Gly398=)
+/. - c.1255del r.(?) p.(Ser419Profs*38)
+/. 11 c.1285G>T r.(?) p.(Glu429*)
?/. - c.1298C>T r.(?) p.(Ser433Leu)
-?/. - c.1299G>C r.(?) p.(Ser433=)
+?/. - c.1306T>A r.(?) p.(Ser436Thr)
-/. - c.1350G>A r.(?) p.(Pro450=)
?/. - c.1387G>A r.(?) p.(Glu463Lys)
-/. - c.1402G>T r.(?) p.(Ala468Ser)
-/. - c.1402G>T r.(?) p.(Ala468Ser)
-?/. - c.1403C>T r.(?) p.(Ala468Val)
-?/. - c.1403C>T r.(?) p.(Ala468Val)
+?/. - c.1407del r.(?) p.(Ile470TyrfsTer54)
-?/. - c.1443C>T r.(?) p.(Asp481=)
+?/. - c.1520_1523del r.(?) p.(Phe507Trpfs*16)
?/. - c.1573T>C r.(?) p.(Trp525Arg)
?/. - c.1580A>C r.(?) p.(His527Pro)
+?/? 11 c.1585C>T r.(?) p.(Arg529Cys)
+/. - c.1586G>A r.(?) p.(Arg529His)
-/. - c.1587T>G r.(?) p.(Arg529=)
-/. - c.1587T>G r.(?) p.(Arg529=)
-/. - c.1587T>G r.(?) p.(Arg529=)
+/. - c.1679del r.(?) p.(Gly560Glufs*21)
+/. - c.1747_1748del r.(?) p.(Arg583Alafs*4)
+/. 11 c.1747_1748del r.(?) p.(Arg583Alafs*4)
-?/. - c.1767C>T r.(?) p.(Ser589=)
?/. - c.1862G>A r.(?) p.(Arg621His)
+?/. - c.1865A>C r.(?) p.(Gln622Pro)
+?/. - c.1894_1897delinsAAA r.(?) p.(Glu632Lysfs*13)
+/. 11 c.1894_1897delinsAAA r.(?) p.(Glu632Lysfs*13)
+/. 11 c.1906_1922delinsAGGGC r.(?) p.(Cys636_Arg641delinsArgAla)
?/. - c.1921C>T r.(?) p.(Arg641Cys)
?/. - c.1922G>A r.(?) p.(Arg641His)
+/. - c.1969G>A r.(?) p.(Glu657Lys)
+/. 11 c.1969G>A r.(?) p.(Glu657Lys)
+/. - c.1972C>T r.(?) p.(Arg658Cys)
+?/. - c.1972C>T r.(?) p.(Arg658Cys)
+/. - c.1972C>T r.(?) p.(Arg658Cys)
+/. - c.1972C>T r.(?) p.(Arg658Cys)
+/. 11 c.1972C>T r.(?) p.(Arg658Cys)
+/. - c.1982T>C r.(?) p.(Leu661Pro)
+/. 11 c.1982T>C r.(?) p.(Leu661Pro)
+/. 11 c.1985T>C r.(?) p.(Leu662Pro)
-?/. - c.2033T>C r.(?) p.(Phe678Ser)
+/. - c.2126G>A r.(?) p.(Trp709Ter)
+?/. - c.2208del r.(?) p.(Cys737Alafs*14)
+?/. - c.2208del r.(?) p.(Cys737Alafs*14)
+/. 11 c.2211_2213del r.(?) p.(Cys737*)
-/. - c.2235T>G r.(?) p.(Ala745=)
+/. - c.2266C>T r.(?) p.(Gln756*)
?/. - c.2339T>C r.(?) p.Leu780Pro
+/. - c.2339T>C r.(?) p.(Leu780Pro)
+/. 11 c.2491_2492del r.(?) p.(Leu832Hisfs*8)
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