Transcript #00025507 (NM_005716.3, GIPC1 gene)

Transcript name transcript variant 1
Gene name GIPC1 (GIPC PDZ domain containing family, member 1)
Chromosome 19
Transcript - NCBI ID NM_005716.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_005707.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -
Date created 2020-05-14 18:54:39 +02:00 (CEST)
Date last edited N/A


Variants

48 entries on 1 page. Showing entries 1 - 48.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     
-/. 1 c.(-339_-175+4)del(12) CGG[15] r.(?) p.(=)
-/. 1 c.(-339_-175+4)del(15) CGG[16] r.(?) p.(=)
-/. 1 c.(-339_-175+4)del(18) CGG[17] r.(?) p.(=)
-/. 1 c.(-339_-175+4)del(21) CGG[18] r.(?) p.(=)
-/. 1 c.(-339_-175+4)del(24) CGG[19] r.(?) p.(=)
-/. 1 c.(-339_-175+4)del(27) CGG[20] r.(?) p.(=)
-/. 1 c.(-339_-175+4)del(30) CGG[21] r.(?) p.(=)
-/. 1 c.(-339_-175+4)del(33) CGG[22] r.(?) p.(=)
-/. 1 c.(-339_-175+4)del(36) CGG[23] r.(?) p.(=)
-/. 1 c.(-339_-175+4)del(39) CGG[24] r.(?) p.(=)
-/. 1 c.(-339_-175+4)del(42) CGG[25] r.(?) p.(=)
-/. 1 c.(-339_-175+4)del(45) CGG[26] r.(?) p.(=)
-/. 1 c.(-339_-175+4)del(57) CGG[30] r.(?) p.(=)
-/. 1 c.(-339_-175+4)del(60) CGG[31] r.(?) p.(=)
-/. 1 c.(-339_-175+4)del(9) CGG[14] r.(?) p.(=)
-/. 1 c.(-339_-175+4)insN[6] CGG[13] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[186] CGG[73] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[213] CGG[82] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[231] CGG[88] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[243] CGG[92] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[252] CGG[95] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[258] CGG[97] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[267] CGG[100] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[276] CGG[103] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[285] CGG[106] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[291] CGG[108] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[291] CGG[108] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[300] CGG[111] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[303] CGG[112] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[306] CGG[113] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[312] CGG[115] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[312] CGG[115] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[318] CGG[117] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[318] CGG[117] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[327] CGG[120] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[330] CGG[121] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[339] CGG[124] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[351] CGG[128] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[354] CGG[129] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[375] CGG[136] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[375] CGG[136] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[381] CGG[138] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[450] CGG[161] r.(?) p.(=)
+/. 1 c.(-211_-180)insN[459] CGG[164] r.(?) p.(=)
-/. - c.756G>A - r.(?) p.(Thr252=)
-/. - c.852G>A - r.(?) p.(Ala284=)
?/. - c.*4417G>C - r.(=) p.(=)
?/. - c.*4555G>A - r.(=) p.(=)
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