Transcript #00020222 (NM_152594.2, SPRED1 gene)

Transcript name sprouty-related, EVH1 domain containing 1
Gene name SPRED1 (sprouty-related, EVH1 domain containing 1)
Chromosome 15
Transcript - NCBI ID NM_152594.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_689807.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

341 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/+ TGD+flanking c.-5366987_*1155801del r.0 p.0
+/+ TGD+flanking c.-5076117_*799493del r.0 p.0
+/+ TGD+flanking c.-753083_*142221del r.0 p.0
+/+ TGD+flanking c.-581681_*2562437del r.0 p.0
+/+ TGD+flanking c.-440412_*1383539del r.0 p.0
+/+ TGD+flanking c.-163137_*707118del r.0 p.0
+/+ TGD+flanking c.-163137_*707118del r.0 p.0
+/+ prom-4 c.(?_-1175)_(423+19_?)del r.0? p.0?
+/+ prom-1 c.(?_-845)_(32+8517_?)del r.0? p.0?
+/+ prom-1 c.(?_-800)_(32+1_?)del r.0? p.0?
?/? 5'UTR c.-24A>G r.(?) p.(=)
+/. - c.1A>T r.(?) p.(Met1?)
+?/+? 1 c.2T>C r.(?) p.(?)
+/+ 1 c.7G>T r.(?) p.(Glu3*)
+/+ 1 c.7_20del r.(?) p.(Glu3Phefs*2)
+/+ 1 c.18del r.(?) p.(Thr7Leufs*15)
+/+ 1 c.22del r.(?) p.(Ser8Leufs*14)
?/? 1 c.26A>T r.26a>u p.Asp9Val
?/? 1 c.26A>T r.26a>u p.Asp9Val
?/? 1 c.26A>T r.26a>u p.Asp9Val
?/? 1 c.26A>T r.26a>u p.Asp9Val
-?/? 1 c.27C>A r.(?) p.(Asp9Glu)
-?/-? 1 c.30C>A r.30c>a p.Asn10Lys
-?/-? 1 c.30C>A r.30c>a p.Asn10Lys
+?/+? 1 c.32+2T>C r.spl? p.(?)
-/. - c.32+20C>T r.(=) p.(=)
-?/-? 1 c.32+43A>G r.= p.=
+/+ 2-6 c.33-20604_684+401delinsGAAA r.33_684del p.Asp11Glufs*4
+/+ 2-4 c.(?_33-17014)_(423+568)delins5 r.(?) p.(Asn12Profs*17)
+/+ 2-4 c.(?_33-5928)_(423+19_?)del r.33_423del p.Asn12Profs*17
-?/. - c.33-6T>C r.(=) p.(=)
-?/-? 2 c.42T>C r.= p.=
+/. - c.46C>T r.(?) p.(Arg16*)
+/+ 2 c.46C>T r.46c>u p.Arg16*
+/+ 2 c.46C>T r.46c>u p.Arg16*
+/+ 2 c.46C>T r.46c>u p.Arg16*
+/+ 2 c.46C>T r.46c>u p.Arg16*
+/+ 2 c.46C>T r.46c>u p.Arg16*
+/+ 2 c.46C>T r.46c>u p.Arg16*
+/+ 2 c.46C>T r.46c>u p.Arg16*
?/+ 2 c.46C>T r.46c>u p.Arg16*
?/+ 2 c.46C>T r.46c>u p.Arg16*
?/+ 2 c.46C>T r.46c>u p.Arg16*
+/. - c.46C>T r.(?) p.(Arg16Ter)
+/+ 2 c.52C>T r.52c>u p.Arg18*
+/+ 2 c.52C>T r.52c>u p.Arg18*
+/+ 2 c.52C>T r.52c>u p.Arg18*
+/+ 2 c.52C>T r.52c>u p.Arg18*
+/+ 2 c.52C>T r.52c>u p.Arg18*
+/+ 2 c.52C>T r.52c>u p.Arg18*
+/+ 2 c.52C>T r.52c>u p.Arg18*
+/+ 2 c.52C>T r.52c>u p.Arg18*
+/. - c.52C>T r.(?) p.(Arg18Ter)
+/+ 2 c.60_61insC r.(?) p.(Val21Argfs*6)
+/. 2 c.70C>T r.(?) p.(Arg24*)
+/+ 2 c.70C>T r.70c>u p.Arg24*
+/+ 2 c.70C>T r.70c>u p.Arg24*
+/+ 2 c.70C>T r.70c>u p.Arg24*
+/+ 2 c.70C>T r.70c>u p.Arg24*
+/+ 2 c.70C>T r.70c>u p.Arg24*
+/+ 2 c.70C>T r.70c>u p.Arg24*
+/+ 2 c.70C>T r.70c>u p.Arg24*
+/+ 2 c.70C>T r.70c>u p.Arg24*
?/+ 2 c.70C>T r.70c>u p.(Arg24*)
+/+ 2 c.70C>T r.70c>u p.Arg24*
+/. 2 c.70C>T r.(?) p.(Arg24*)
+/. - c.70C>T r.(?) p.(Arg24Ter)
?/? 2 c.71G>A r.71g>a p.Arg24Gln
?/? 2 c.71G>A r.71g>a p.Arg24Gln
+/+ 2 c.87_88dup r.87_88dup p.Gly30Valfs*11
?/? 2 c.88G>A r.88g>a p.Gly30Arg
?/? 2 c.91T>A r.91u>a p.Trp31Arg
+?/+? 2 c.92G>T r.92g>u p.Trp31Leu
+/. - c.93G>C r.(?) p.(Trp31Cys)
+/+ 2 c.93G>T r.(?) p.(Trp31Cys)
+/+ 2 c.93G>T r.(?) p.(Trp31Cys)
+/+ 2 c.93G>T r.(?) p.(Trp31Cys)
+/. - c.93G>T r.(?) p.(Trp31Cys)
+/+ 2 c.107_110del r.107_110del p.Gly36Valfs*3
+/+ 2 c.108del r.(?) p.(Ser37Valfs*3)
?/. - c.124G>A r.(?) p.(Val42Ile)
?/? 2 c.124G>A r.124g>a p.Val42Ile
?/? 2 c.124G>A r.124g>a p.Val42Ile
?/? 2 c.124G>A r.124g>a p.Val42Ile
?/? 2 c.131T>A r.(?) p.(Val44Asp)
+/+ 2 c.148C>T r.148c>u p.(Gln50*)
+/+ 2 c.148C>T r.148c>u p.(Gln50*)
+/+ 2 c.148C>T r.148c>u p.(Gln50*)
+/+ 2 c.177del r.(?) p.(Phe59Leufs*62)
-?/. - c.182G>A r.(?) p.(Arg61His)
+/+ 2 c.190C>T r.190c>u p.Arg64*
+/+ 2 c.190C>T r.190c>u p.Arg64*
+/+ 2 c.190C>T r.190c>u p.Arg64*
+/+ 2 c.190C>T r.190c>u p.Arg64*
+/+ 2 c.190C>T r.190c>u p.Arg64*
+/+ 2 c.190C>T r.190c>u p.Arg64*
+/+ 2 c.190C>T r.190c>u p.Arg64*
+/. - c.190C>T r.(?) p.(Arg64Ter)
+/. - c.207+1G>A r.spl? p.?
+/+ 2 c.207+1G>T r.33_207del p.Asp11Glufs*52
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