Transcript #00025709 (NM_001243133.1, NLRP3 gene)

Transcript name transcript variant 6
Gene name NLRP3 (NLR family, pyrin domain containing 3)
Chromosome 1
Transcript - NCBI ID NM_001243133.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001230062.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

298 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-561T>C r.(?) p.(=)
-/. - c.-561T>G r.(=) p.(=)
-/. - c.-561T>G r.(=) p.(=)
-/. - c.-40G>T r.(?) p.(=)
?/. - c.146A>G r.(?) p.(His49Arg)
-/. - c.207C>T r.(?) p.(Ala69=)
-/. - c.207C>T r.(?) p.(Ala69=)
-?/. - c.207C>T r.(?) p.(Ala69=)
?/. - c.208G>A r.(?) p.(Val70Met)
-?/. - c.208G>A r.(?) p.(Val70Met)
-?/. - c.224C>T r.(?) p.(Ala75Val)
-?/. - c.225G>T r.(?) p.(Ala75=)
-?/. - c.267G>A r.(?) p.(Glu89=)
-/. - c.277+85_277+87del r.(=) p.(=)
-?/. - c.278-196T>C r.(=) p.(=)
-/. - c.278-45T>C r.(=) p.(=)
-?/. - c.309T>C r.(?) p.(Thr103=)
-?/. - c.357G>A r.(?) p.(Leu119=)
-?/. - c.397+7G>A r.(=) p.(=)
-/. - c.397+7G>A r.(=) p.(=)
-?/. - c.397+7G>A r.(=) p.(=)
-/. - c.398-229T>G r.(=) p.(=)
-?/. - c.398-56C>T r.(=) p.(=)
-?/. - c.398-15C>T r.(=) p.(=)
-?/. - c.403C>G r.(?) p.(Arg135Gly)
-?/. - c.403C>T r.(?) p.(Arg135Cys)
?/. - c.404G>A r.(?) p.(Arg135His)
-?/. - c.423C>T r.(?) p.(Tyr141=)
-/. - c.423C>T r.(?) p.(Tyr141=)
?/. - c.443G>A r.(?) p.(Cys148Tyr)
-?/. - c.450A>G r.(?) p.(Glu150=)
-?/. - c.450A>G r.(?) p.(Glu150=)
?/. - c.476G>T r.(?) p.(Ser159Ile)
-?/. - c.481A>G r.(?) p.(Ser161Gly)
?/. - c.503G>A r.(?) p.(Arg168Gln)
+?/. - c.508C>A r.(?) p.(Arg170Ser)
?/. - c.508C>T r.(?) p.(Arg170Cys)
+?/. - c.515T>C r.(?) p.(Ile172Thr)
?/. - c.517A>G r.(?) p.(Lys173Glu)
-?/. - c.564C>T r.(?) p.(Ile188=)
?/. - c.578C>T r.(?) p.(Thr193Met)
-/. - c.587G>A r.(?) p.(Ser196Asn)
-?/. - c.592G>A r.(?) p.(Val198Met)
-?/. - c.592G>A r.(?) p.(Val198Met)
-/. - c.592G>A r.(?) p.(Val198Met)
?/. - c.592G>A r.(?) p.(Val198Met)
+?/. - c.592G>A r.(?) p.(Val198Met)
+?/. - c.592G>A r.(?) p.(Val198Met)
+?/. - c.592G>A r.(?) p.(Val198Met)
?/. - c.592G>A r.(?) p.(Val198Met)
?/. - c.631G>A r.(?) p.(Asp211Asn)
?/. - c.638A>G r.(?) p.(His213Arg)
-?/. - c.638A>G r.(?) p.(His213Arg)
-/. - c.657C>T r.(?) p.(Thr219=)
-/. - c.657C>T r.(?) p.(Thr219=)
-?/. - c.673G>A r.(?) p.(Ala225Thr)
?/. - c.674C>T r.(?) p.(Ala225Val)
?/. - c.681G>T r.(?) p.(Gly227=)
-?/. - c.693A>T r.(?) p.(Thr231=)
-?/. - c.699G>A r.(?) p.(Leu233=)
-/. - c.726G>A r.(?) p.(Ala242=)
-/. - c.726G>A r.(?) p.(Ala242=)
-/. - c.726G>A r.(?) p.(Ala242=)
+/. - c.777T>G r.(?) p.(Cys259Trp)
+/. - c.778C>T r.(?) p.(Arg260Trp)
+/. - c.778C>T r.(?) p.(Arg260Trp)
+/. - c.778C>T r.(?) p.(Arg260Trp)
+/. - c.779G>C r.(?) p.(Arg260Pro)
+/. - c.779G>T r.(?) p.(Arg260Leu)
-/. - c.780= r.(=) p.(Arg260=)
-/. - c.780= r.(=) p.(Arg260=)
+/. - c.785T>C r.(?) p.(Val262Ala)
+?/. - c.790C>G r.(?) p.(Leu264Val)
+/. - c.790C>T r.(?) p.(Leu264Phe)
+/. - c.791T>A r.(?) p.(Leu264His)
+?/. - c.791T>G r.(?) p.(Leu264Arg)
?/. - c.796A>C r.(?) p.(Thr266Pro)
?/. - c.838G>A r.(?) p.(Asp280Asn)
?/. - c.838G>C r.(?) p.(Asp280His)
-?/. - c.838G>C r.(?) p.(Asp280His)
-?/. - c.839A>C r.(?) p.(Asp280Ala)
-?/. - c.846C>A r.(?) p.(Asn282Lys)
-?/. - c.864C>G r.(?) p.(Ile288Met)
?/. - c.895A>G r.(?) p.(Met299Val)
-?/. - c.900C>T r.(?) p.(Asp300=)
?/. - c.901G>A r.(?) p.(Gly301Ser)
?/. - c.902G>A r.(?) p.(Gly301Asp)
+/. - c.907G>A r.(?) p.(Asp303Asn)
+/. - c.907G>A r.(?) p.(Asp303Asn)
+/. - c.907G>A r.(?) p.(Asp303Asn)
+?/. - c.907G>C r.(?) p.(Asp303His)
+/. - c.908A>C r.(?) p.(Asp303Ala)
+/. - c.908A>G r.(?) p.(Asp303Gly)
+/. - c.910G>A r.(?) p.(Glu304Lys)
+/. - c.914T>C r.(?) p.(Leu305Pro)
+/. - c.916C>A r.(?) p.(Gln306Lys)
+?/. - c.916C>G r.(?) p.(Gln306Glu)
+/. - c.919G>A r.(?) p.(Gly307Ser)
+?/. - c.920G>T r.(?) p.(Gly307Val)
+?/. - c.926T>A r.(?) p.(Phe309Tyr)
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