Transcript #00004407 (NM_033337.2, CAV3 gene)

Transcript name transcript variant 1
Gene name CAV3 (caveolin 3)
Chromosome 3
Transcript - NCBI ID NM_033337.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_203123.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

442 entries on 5 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. 1 c.-122C>T r.(?) p.(=)
?/. 1 c.-106G>A r.(?) p.(=)
-/. 1 c.-106G>A r.(?) p.(=)
-?/. - c.-37G>A r.(?) p.(=)
?/. 1 c.-37G>A r.(?) p.(=)
?/. 1 c.-37G>A r.(?) p.(=)
-/. - c.-10dup r.(?) p.(=)
-?/. - c.-1G>A r.(?) p.(=)
?/. 1 c.-1G>A r.(?) p.(?)
-/. - c.-1G>A r.(?) p.(=)
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0
+/. 1 c.10_17del r.(?) p.(Glu4Hisfs*17)
+/. 1 c.13dup r.(?) p.(Glu5GlyfsTer19)
+/. 1 c.13dup r.(?) p.(Glu5GlyfsTer19)
-/. 1 c.27C>T r.(?) p.(=)
-/. 1 c.27C>T r.(?) p.(=)
-/. 1 c.27C>T r.(?) p.(=)
-/. 1 c.27C>T r.(?) p.(=)
-/. 1 c.27C>T r.(?) p.(=)
-/. - c.27C>T r.(?) p.(Leu9=)
-/. - c.27C>T r.(?) p.(Leu9=)
?/. - c.28G>A r.(?) p.(Glu10Lys)
-?/. - c.39C>T r.(?) p.(Ile13=)
-/. - c.40G>A r.(?) p.(Val14Ile)
?/. - c.40G>A r.(?) p.(Val14Ile)
?/. 1 c.40G>A r.(?) p.(Val14Ile)
?/. 1 c.40G>A r.(?) p.(Val14Ile)
-?/. - c.40G>A r.(?) p.(Val14Ile)
+?/. - c.40G>A r.(?) p.(Val14Ile)
+/. 1 c.40G>C r.(?) p.(Val14Leu)
+/. 1 c.79C>G r.(?) p.(Arg27Gly)
+/. 1 c.79C>G r.(?) p.(Arg27Gly)
+/. - c.80G>A r.(?) p.(Arg27Gln)
+/. - c.80G>A r.(?) p.(Arg27Gln)
+/. - c.80G>A r.(?) p.(Arg27Gln)
+/. - c.80G>A r.(?) p.(Arg27Gln)
+/. - c.80G>A r.(?) p.(Arg27Gln)
+?/. - c.80G>A r.(?) p.(Arg27Gln)
+/. 1 c.80G>A r.(?) p.(Arg27Gln)
+/. 1 c.80G>A r.(?) p.Arg27Gln
+/. 1 c.80G>A r.(?) p.(Arg27Gln)
+/. 1 c.80G>A r.(?) p.(Arg27Gln)
+/. 1 c.80G>A r.(?) p.(Arg27Gln)
+/. 1 c.80G>A r.(?) p.(Arg27Gln)
+/. 1 c.80G>A r.(?) p.(Arg27Gln)
+/. 1 c.80G>A r.(?) p.(Arg27Gln)
+/. 1 c.80G>A r.(?) p.(Arg27Gln)
+/. 1 c.80G>A r.(?) p.(Arg27Gln)
+/. 1 c.80G>A r.(?) p.(Arg27Gln)
+/. 1 c.80G>A r.(?) p.(Arg27Gln)
+/. 1 c.80G>A r.(?) p.(Arg27Gln)
+/. 1 c.80G>A r.(?) p.(Arg27Gln)
+/. 1 c.80G>A r.(?) p.(Arg27Gln)
+/. 1 c.80G>A r.(?) p.(Arg27Gln)
+/. 1 c.80G>A r.(?) p.(Arg27Gln)
+/. 1 c.80G>A r.80g>a p.Arg27Gln
+/. 1 c.80G>A r.(?) p.(Arg27Gln)
+/. 1 c.80G>A r.(?) p.(Arg27Gln)
+/. 1 c.80G>A r.(?) p.(Arg27Gln)
+/. 1 c.80G>A r.(?) p.(Arg27Gln)
+/. 1 c.80G>A r.(?) p.(Arg27Gln)
+/. 1 c.80G>A r.(?) p.(Arg27Gln)
+/. 1 c.80G>A r.(?) p.(Arg27Gln)
+/. 1 c.80G>A r.(?) p.(Arg27Gln)
?/. 1 c.80G>C r.(?) p.(Arg27Pro)
+/. 1 c.84C>A r.(?) p.(Asp28Glu)
+/. 1 c.84C>A r.(?) p.(Asp28Glu)
+/. 1 c.85C>A r.(?) p.(Pro29Thr)
+/. 1 c.86C>T r.(?) p.(Pro29Leu)
+/. 1 c.86C>T r.(?) p.(Pro29Leu)
?/. - c.95T>C r.(?) p.(Ile32Thr)
+?/. - c.99C>A r.(?) p.(Asn33Lys)
+?/. - c.99C>A r.(?) p.(Asn33Lys)
+/. 1 c.99C>G r.(?) p.(Asn33Lys)
+/. 1 c.99C>G r.(?) p.(Asn33Lys)
+?/. - c.99C>G r.(?) p.(Asn33Lys)
+/. 1 c.99C>G r.(?) p.(Asn33Lys)
-/. - c.99C>T r.(?) p.(Asn33=)
-/. - c.99C>T r.(?) p.(Asn33=)
-/. 1 c.99C>T r.(?) p.(=)
-/. 1 c.99C>T r.(?) p.(=)
-/. 1 c.99C>T r.(?) p.(=)
-/. 1 c.99C>T r.(?) p.(=)
-/. 1 c.99C>T r.(?) p.(=)
-/. 1 c.99C>T r.(?) p.(=)
-/. 1 c.99C>T r.(?) p.(=)
-/. 1 c.99C>T r.(?) p.(=)
-/. 1 c.99C>T r.(?) p.(=)
-/. - c.99C>T r.(?) p.(Asn33=)
-/. 1 c.99C>T r.(=) p.(=)
-/. 1 c.99C>T r.(?) p.(=)
-/. - c.99C>T r.(?) p.(Asn33=)
?/. - c.99del r.(?) p.(Asn33Lysfs*4)
+/. 1 c.100G>A r.100g>a p.Glu34Lys
+?/. - c.100G>A r.(?) p.(Glu34Lys)
?/. - c.100G>T r.(?) p.(Glu34*)
+?/. - c.114+2T>C r.spl? p.?
+/. 1i c.114+2T>C r.[114_115ins114+1_114+41;114+2T>C, 73_114del, =] p.[Val39Alafs*20, Val25_Lys38del, =]
+/. 1i c.114+2T>C r.[114_115ins114+1_114+41;114+2T>C, 73_114del, =] p.[Val39Alafs*20, Val25_Lys38del, =]
-?/. - c.114+6C>T r.(=) p.(=)
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