Transcript #00001031

Transcript name thrombospondin-type laminin G domain and EAR repeats
Gene name TSPEAR (thrombospondin-type laminin G domain and EAR repeats)
Chromosome 21
Transcript - NCBI ID NM_144991.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_659428.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

35 entries on 1 page. Showing entries 1 - 35.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.44C>T r.(?) p.(Ala15Val)
-/. - c.51C>T r.(?) p.(=)
-?/. - c.54C>T r.(?) p.(=)
-?/. - c.57C>T r.(?) p.(=)
-?/. - c.82+13629A>G r.(=) p.(=)
?/. - c.82+64497G>A r.(=) p.(=)
?/. - c.83-59839_83-59825del r.(=) p.(=)
?/. - c.83-59316C>T r.(=) p.(=)
?/. - c.83-45718G>C - p.(=)
?/. - c.83-24475T>C r.(=) p.(=)
?/. - c.83-24474G>A r.(=) p.(=)
-?/. - c.151G>A r.(?) p.(Val51Ile)
-?/. - c.343G>A r.(?) p.(Asp115Asn)
?/. - c.364C>T r.(?) p.(Arg122Trp)
?/. - c.415G>A r.(?) p.(Gly139Ser)
+/. - c.589C>T r.(?) p.(Arg197*)
?/. - c.614G>C r.(?) p.(Arg205Thr)
+?/. - c.633+2C>T r.spl? p.?
?/. - c.668C>T r.(?) p.(Ser223Leu)
?/. - c.673G>A r.(?) p.(Ala225Thr)
-?/. - c.714G>A r.(?) p.(=)
?/. - c.872G>A r.(?) p.(Arg291Gln)
-?/. - c.1017G>A r.(?) p.(=)
+/. - c.1273C>T r.(?) p.(Arg425*)
?/. - c.1329C>A r.(?) p.(His443Gln)
-?/. - c.1335A>G r.(?) p.(=)
-?/. - c.1515G>A r.(?) p.(=)
-?/. - c.1566+5G>A r.spl? p.?
+/+ 10 c.1675_1676del r.(?) p.(Tyr559Cysfs*134)
+/+ 10 c.1726_1728delinsTT r.(?) p.(Val576Leufs*38)
-?/. - c.1746C>T r.(?) p.(=)
-?/. - c.1755-7C>T r.(=) p.(=)
+?/+? 11 c.1826G>A r.(?) p.(Arg609His)
?/. - c.1879G>A r.(?) p.(Val627Met)
?/. - c.1915G>A r.(?) p.(Asp639Asn)
Legend