Transcript #00023933 (NM_033517.1, SHANK3 gene)

Transcript name SH3 and multiple ankyrin repeat domains 3
Gene name SHANK3 (SH3 and multiple ankyrin repeat domains 3)
Chromosome 22
Transcript - NCBI ID NM_033517.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_277052.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

255 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-3930126_*497046del r.0? p.0?
+?/. - c.? r.(?) p.(Thr1063SerfsTer19)
+?/. - c.? r.? p.?
+?/. - c.? r.? p.?
-?/. - c.249G>T r.(?) p.(=)
?/. - c.268-2A>T r.spl? p.?
-?/. - c.340-15C>T r.(=) p.(=)
?/. - c.343A>T r.(?) p.(Asn115Tyr)
?/. - c.358A>G r.(?) p.(Met120Val)
-?/. - c.366C>T r.(?) p.(=)
-/. - c.448+16G>A r.(=) p.(=)
-/. - c.448+16G>A r.(=) p.(=)
+/. - c.449-2A>G r.spl? p.?
-?/. - c.471C>T r.(?) p.(=)
-?/. - c.483C>T r.(?) p.(=)
-?/. 5 c.484G>A r.(?) p.(Ala162Thr)
?/. - c.542G>A r.(?) p.(Arg181His)
?/. - c.563A>G r.(?) p.(His188Arg)
?/. - c.600+1G>A r.spl? p.?
+/. 5i c.601-1G>A r.(601_668del) p.(Thr201Argfs*11)
-?/. - c.612C>A r.(?) p.(Asp204Glu)
-?/. - c.646G>A r.(?) p.(Gly216Ser)
-/. - c.734T>C r.(?) p.(Ile245Thr)
-/. - c.734T>C r.(?) p.(Ile245Thr)
-?/. - c.768+14C>T r.(=) p.(=)
-/. - c.769-7C>G r.(=) p.(=)
-?/. - c.769-7C>G r.(=) p.(=)
-?/. - c.795T>C r.(?) p.(=)
-?/. - c.816T>C r.(?) p.(=)
-?/. - c.829G>A r.(?) p.(Gly277Arg)
-?/. - c.829G>A r.(?) p.(Gly277Arg)
-?/. - c.831G>T r.(?) p.(=)
-?/. - c.840C>T r.(?) p.(=)
-?/. - c.855A>G r.(?) p.(=)
-?/. - c.859C>T r.(?) p.(=)
-?/. - c.870T>C r.(?) p.(=)
?/. - c.885+3_885+4insAGTGCTGAG r.spl? p.?
-?/. - c.885+5G>T r.spl? p.?
?/. - c.885+5G>T r.spl? p.?
?/. - c.885+5_885+6insCATTTAAAGGAAATAATGTAT r.spl? p.?
?/. - c.885+5_885+6insCATTTAAAGGAAATAATGTATAC r.spl? p.?
-?/. - c.885+5_885+6insCATTTAAAGGAAATAATGTATACAGTGGTCCATTTCCAAA r.spl? p.?
+?/. 7i_22_ c.886-283_*17963del r.? p.?
-?/. - c.886-8C>T r.(=) p.(=)
-/. - c.891C>T r.(?) p.(=)
-/. - c.891C>T r.(?) p.(=)
-?/. - c.891C>T r.(?) p.(=)
?/? 8 c.898C>T r.(?) p.(Arg300Cys)
?/. - c.899G>A r.(?) p.(Arg300His)
?/. - c.908T>C r.(?) p.(Leu303Pro)
-?/. - c.941A>G r.(?) p.(Tyr314Cys)
?/. - c.950A>G r.(?) p.(Gln317Arg)
-?/. - c.954A>C r.(?) p.(=)
-?/. - c.963+7C>T r.(=) p.(=)
-?/. - c.963+8G>A r.(=) p.(=)
-?/. - c.964-5C>T r.spl? p.?
-?/. - c.1010C>T r.(?) p.(Thr337Ile)
?/. - c.1010C>T r.(?) p.(Thr337Ile)
-?/. - c.1030+12C>T r.(=) p.(=)
-?/. - c.1030+13C>T r.(=) p.(=)
+/. - c.1069C>T r.(?) p.(Arg357*)
-?/. - c.1074G>A r.(?) p.(=)
+/. - c.1079dup r.(?) p.(Ser362Glnfs*51)
+/. - c.1079dup r.(?) p.(Ser362Glnfs*51)
?/. - c.1237C>T r.(?) p.(Arg413Trp)
-?/. - c.1245C>T r.(?) p.(=)
-?/. - c.1288G>A r.(?) p.(Gly430Ser)
?/. 10i c.1302+44G>A r.(?) p.(=)
+?/. - c.1303-289del r.(=) p.(=)
-/. - c.1303-31G>A r.(=) p.(=)
-/. - c.1303-16_1303-4del r.spl? p.?
-?/. - c.1303-9_1303-6del r.(=) p.(=)
?/. - c.1303-8_1303-5del r.spl? p.?
-?/. - c.1303-5T>C r.spl? p.?
-/. - c.1303-3_1303-2insC r.spl? p.?
?/. - c.1303-3_1303-2insC r.spl? p.?
?/. - c.1303-2A>G r.spl? p.?
?/. - c.1303-1G>C r.spl? p.?
-?/. - c.1303-1_1303insGCCCCGGCCCCGCGCCCGGC r.spl? p.?
-/. - c.1304_1308del r.? p.?
?/. - c.1304_1308del r.? p.?
-?/. - c.1307+1_1308-1del r.spl? p.?
?/. - c.1315C>G r.(?) p.(Pro439Ala)
-?/. - c.1459+16G>A r.(=) p.(=)
-?/. - c.1459+21_1459+30del r.(=) p.(=)
?/. - c.1459+21_1459+30del r.(=) p.(=)
?/. - c.1511C>T r.(?) p.(Thr504Met)
-/. - c.1573+18T>C r.(=) p.(=)
-/. - c.1573+18T>C r.(=) p.(=)
-/. - c.1574-8C>T r.(=) p.(=)
-?/. - c.1574-8C>T r.(=) p.(=)
+/. 12i_22_ c.1613-206_*14000del r.? p.?
-/. - c.1649+18G>A r.(=) p.(=)
-/. - c.1732+16T>A r.(=) p.(=)
?/. - c.1758G>A r.(?) p.(=)
-/. - c.1764G>A r.(?) p.(=)
-?/. - c.1764G>A r.(?) p.(=)
?/. - c.1828G>A r.(?) p.(Gly610Arg)
-?/. - c.1854C>T r.(?) p.(=)
-/. - c.1857+19G>C r.(=) p.(=)
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