Transcript #00008525 (NM_133261.2, GIPC3 gene)

Transcript name GIPC PDZ domain containing family, member 3
Gene name GIPC3 (GIPC PDZ domain containing family, member 3)
Chromosome 19
Transcript - NCBI ID NM_133261.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_573568.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

38 entries on 1 page. Showing entries 1 - 38.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.69G>A r.(?) p.(Ala23=)
-?/-? 1 c.69G>A r.(=) p.(=)
+/+ 1 c.122C>A r.(?) p.(Thr41Lys)
+/+ 1 c.136G>A r.(?) p.(Gly46Arg)
+/+ 1i c.226-1G>T r.spl? p.?
+/+ 2 c.241C>T r.(?) p.(Leu81Phe)
?/. - c.245A>G r.(?) p.(Asn82Ser)
+/+ 2 c.264G>A r.(?) p.(Met88Ile)
+/+ 2 c.279_295del r.(?) p.(Gln95Leufs*17)
+/+ 2 c.281G>A r.(?) p.(Gly94Asp)
?/? 2 c.298G>A r.(?) p.(Asp100Asn)
?/. - c.326A>G r.(?) p.(Glu109Gly)
+?/. - c.412-1G>T r.spl? p.?
-?/-? 3 c.440G>A r.(?) p.(Arg147Gln)
+?/+? 3 c.508C>A r.(?) p.(His170Asn)
+/+ 3 c.565C>T r.(?) p.(Arg189Cys)
-?/-? 3 c.576G>A r.(=) p.(=)
-?/-? 4 c.626G>A r.(?) p.(Cys209Tyr)
+/+ 4 c.662C>T r.(?) p.(Thr221Ile)
+/+ 4 c.667C>G r.(?) p.(Arg223Gly)
?/? 4 c.674G>A r.(?) p.(Arg225His)
+/+ 4 c.685dup r.(?) p.(Ala229Glyfs*10)
-?/. - c.706-9T>G r.(=) p.(=)
+/+ 5 c.767G>A r.(?) p.(Gly256Asp)
+/+ 5 c.772C>T r.(?) p.(Arg258Trp)
?/. - c.773G>A r.(?) p.(Arg258Gln)
+/+ 5 c.785T>G r.(?) p.(Leu262Arg)
?/. - c.788-9G>A r.(=) p.(=)
+/+ 6 c.812del r.(?) p.(Gly271Valfs*47)
?/. - c.838G>C r.(?) p.(Ala280Pro)
+?/. - c.838G>C r.(?) p.(Ala280Pro)
-?/. - c.856G>A r.(?) p.(Val286Ile)
-/- 6 c.856G>A r.(?) p.(Val286Ile)
?/. - c.871G>A r.(?) p.(Ala291Thr)
?/? 6 c.875T>C r.(?) p.(Phe292Ser)
+/+ 6 c.903G>A r.(?) p.(Trp301*)
-?/. - c.923G>C r.(?) p.(Arg308Thr)
-/. - c.*4905dup r.(?) p.(=)
Legend