Transcript #00024072 (NM_001458.4, FLNC gene)

Transcript name transcript variant 1
Gene name FLNC (filamin C, gamma)
Chromosome 7
Transcript - NCBI ID NM_001458.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_001449.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

1046 entries on 11 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     
./. - c.-7470628_*7075382del r.0? p.0? -
-?/. - c.-87C>G r.(?) p.(=) -
-?/. - c.-57C>T r.(?) p.(=) -
-/. - c.-26_-9dup r.(?) p.(=) -
-/. - c.-12G>T r.(?) p.(=) -
+?/. 1 c.19del r.(?) p.(Tyr7Thrfs*51) ABD, CH1
-?/. - c.31G>A r.(?) p.(Gly11Ser) -
?/. - c.61A>G r.(?) p.(Met21Val) -
-/. - c.96G>A r.(?) p.(Ala32=) -
-?/. - c.96G>A r.(?) p.(Ala32=) -
+?/. 1 c.102G>A r.(?) p.(Trp34*) ABD, CH1
+?/. 1 c.115C>T r.(?) p.(Gln39*) ABD, CH1
?/. - c.140A>G r.(?) p.(Asn47Ser) -
-/. - c.147C>T r.(?) p.(His49=) -
-/. - c.147C>T r.(?) p.(His49=) -
-?/. - c.153G>A r.(?) p.(Lys51=) -
?/. - c.161G>A r.(?) p.(Gly54Asp) ABD, CH1
+?/. 1 c.230_234del r.(?) p.(Leu77Profs*73) ABD, CH1
-?/. - c.231C>T r.(?) p.(Leu77=) -
?/. 1 c.241C>T r.(?) p.(Arg81Cys) CH1, ABD
+?/. 1 c.241del r.(?) p.(Arg81Alafs*15) ABD, CH1
?/. - c.248_265dup r.(?) p.(Pro88_Arg89insHisArgLysPheHisPro) -
?/. - c.248_265dup r.(?) p.(Pro88_Arg89insHisArgLysPheHisPro) -
?/. 1 c.248_265dup r.(?) p.(Pro88_Arg89insHisArgLysPheHisPro) ABD, CH1
+?/. 1 c.249C>G r.(?) p.(Tyr83*) ABD, CH1
-?/. - c.294G>A r.(?) p.(Glu98=) -
-/. - c.294G>A r.(?) p.(Glu98=) -
+?/. 1 c.318C>G r.(?) p.(Phe106Leu) ABD, CH1
+?/. 1 c.322G>T r.(?) p.(Glu108*) ABD, CH1
?/. - c.328G>A r.(?) p.(Glu110Lys) -
?/. 1 c.328G>A r.(?) p.(Glu110Lys) ABD, CH1
-?/. - c.352+8C>G r.(=) p.(=) -
-/. - c.352+10G>A r.(=) p.(=) -
-?/. - c.353-9C>T r.(=) p.(=) -
-/. - c.366C>T r.(?) p.(Ile122=) -
+?/. - c.367G>A r.(?) p.(Val123Met) -
+?/. 2 c.367G>A r.(?) p.(Val123Met) ABD, CH1
+?/. 2 c.368T>C r.(?) p.(Val123Ala) ABD, CH1
-/. - c.369G>C r.(?) p.(Val123=) -
+?/. 2 c.404G>A r.(?) p.(Trp135*) ABD, CH1
+/. - c.404G>A r.(?) p.(Trp135Ter) -
?/. - c.420C>A r.(?) p.(His140Gln) -
?/. - c.439A>G r.(?) p.(Met147Val) -
?/. - c.449A>G r.(?) p.Asp150Gly -
?/. - c.449A>G r.(?) p.(Asp150Gly) -
?/. 2 c.449A>G r.(?) p.(Asp150Gly) ABD, CH1
?/. - c.449A>G r.(?) p.(Asp150Gly) -
-?/. - c.449A>G r.(?) p.(Asp150Gly) -
?/. - c.519G>A r.(?) p.(Val173=) -
+/. - c.554G>A r.(?) p.(Trp185Ter) -
-?/. - c.558G>A r.(?) p.(Gln186=) -
-?/. - c.558G>A r.(?) p.(Gln186=) -
-/. - c.558G>A r.(?) p.(Gln186=) -
-?/. - c.561C>T r.(?) p.(Asp187=) -
-/. - c.561C>T r.(?) p.(Asp187=) -
-/. - c.561C>T r.(?) p.(Asp187=) -
-/. - c.561C>T r.(?) p.(Asp187=) -
+?/. - c.577G>A r.(?) p.(Ala193Thr) -
+?/. - c.577G>A r.(?) p.(Ala193Thr) -
+?/. 2 c.577G>A r.(?) p.(Ala193Thr) ABD, CH2
+?/. - c.577G>A r.(?) p.(Ala193Thr) -
+?/. - c.577G>A r.(?) p.(Ala193Thr) -
+?/. 2 c.581_599del r.(?) p.(Leu194Profs*52) ABD, CH2
-?/. - c.597C>T r.(?) p.(Ala199=) -
-/. - c.597C>T r.(?) p.(Ala199=) -
-?/. - c.597C>T r.(?) p.(Ala199=) -
-?/. - c.597C>T r.(?) p.(Ala199=) -
-/. - c.600C>T r.(?) p.(Pro200=) -
-?/. - c.600C>T r.(?) p.(Pro200=) -
-?/. - c.600C>T r.(?) p.(Pro200=) -
-?/. - c.600C>T r.(?) p.(Pro200=) -
+?/. 2 c.601+1G>T r.spl p.? ABD, CH2
+?/. 3 c.602-716_1010delins353-1376_353-1339 r.spl p.Gly201Valfs*36 ABD, CH2
-?/. - c.602-34C>T r.(=) p.(=) -
-?/. - c.602-16T>A r.(=) p.(=) -
-/. - c.602-16T>A r.(=) p.(=) -
-?/. - c.602-16T>A r.(=) p.(=) -
-/. - c.602-11C>T r.(=) p.(=) -
-/. - c.602-11C>T r.(=) p.(=) -
-/. - c.642C>T r.(?) p.(Pro214=) -
+?/. - c.643G>A r.(?) p.(Val215Met) -
+?/. 3 c.664A>G r.(?) p.(Met222Val) ABD, CH2
+/. - c.697C>T r.(?) p.(Gln233Ter) -
+?/. 3 c.697C>T r.(?) p.(Gln233*) ABD, CH2
-?/. - c.699+34G>A r.(=) p.(=) -
-?/. - c.700-31C>T r.(=) p.(=) -
-?/. - c.700-30G>A r.(=) p.(=) -
-/. - c.700-12T>C r.(=) p.(=) -
-?/. - c.700-5C>T r.spl? p.? -
+?/. - c.700-2A>G r.spl? p.? -
+?/. 4 c.711del r.(?) p.(Glu238Argfs*14) ABD, CH2
+?/. - c.719T>C r.(?) p.(Ile240Thr) -
-/. - c.720T>C r.(?) p.(Ile240=) -
-/. - c.720T>C r.(?) p.(Ile240=) -
?/. 4 c.743A>T r.(?) p.(His248Leu) ABD, CH2
?/. - c.743A>T r.(?) p.(His248Leu) -
+?/. 4 c.752T>C r.(?) p.(Met251Thr) ABD, CH2
+?/. - c.754A>C r.(?) p.(Thr252Pro) -
-/. - c.795T>C r.(?) p.(Gly265=) -
-/. - c.795T>C r.(?) p.(Gly265=) -
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