rs748087575 Rat Genome Database

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Variant: rs748087575 -  Homo sapiens

RGD ID: 126747758
RS ID: rs748087575
ClinVar ID: CV1003597
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CASP8  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 202,131,301
GRCh38 2 201,266,578
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_34t1:c.92C>T
LRG_34t2:c.92C>T
LRG_34t3:c.92C>T
NM_001080125.2:c.269C>T
More... 		05/13/2022 5 prime utr variant|missense variant uncertain significance AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB; Caspase-8 deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CASP8
Accession:NM_001400678
Location:5UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400680
Location:5UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400674
Location:5UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400750
Location:5UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400673
Location:5UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400671
Location:5UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400677
Location:5UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400751
Location:5UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400676
Location:5UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400669
Location:5UTRS;INTRON

Gene Symbol:CASP8
Accession:XM_047445960
Location:5UTRS;INTRON

Gene Symbol:CASP8
Accession:NM_001400672
Location:5UTRS;INTRON

Gene Symbol:CASP8
Accession:NM_001400675
Location:5UTRS;INTRON

Gene Symbol:CASP8
Accession:NM_001400658
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFSRNLYDIGEQLDSEDLASLKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLN
TRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDIL
KRVCAQINKSLLKIINDYEEFSKGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIINNHNFAKAREKVPKLH
SIRDRNGTHLDAGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDKGIIYGTDGQEAPIYE
LTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFLLGMATVNNCVSYRNP
AEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD*

Gene Symbol:CASP8
Accession:NM_001080124
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFSRNLYDIGEQLDSEDLASLKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLN
TRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDIL
KRVCAQINKSLLKIINDYEEFSKGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIINNHNFAKAREKVPKLH
SIRDRNGTHLDAGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDKGIIYGTDGQEAPIYE
LTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFLLGMATVNNCVSYRNP
AEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD*

Gene Symbol:CASP8
Accession:NM_001080125
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGGRRARVVIESKRNFFLGAFPTPFPAEHVELGRLGDSETAMVPGKGGADYILLPFKKMDFSRNLYDIGEQLDSEDLAS
LKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLNTRKEEMERELQTPGRAQISAY
RVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDILKRVCAQINKSLLKIINDYEEF
SKERSSSLEGSPDEFSNGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIINNHNFAKAREKVPKLHSIRDRN
GTHLDAGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDKGIIYGTDGQEAPIYELTSQFT
GLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFLLGMATVNNCVSYRNPAEGTWY
IQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD*

Gene Symbol:CASP8
Accession:NM_033356
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFSRNLYDIGEQLDSEDLASLKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLN
TRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDIL
KRVCAQINKSLLKIINDYEEFSKGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIINNHNFAKAREKVPKLH
SIRDRNGTHLDAGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDKGIIYGTDGQEAPIYE
LTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFLLGMATVNNCVSYRNP
AEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD*

Gene Symbol:CASP8
Accession:NM_001372051
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFSRNLYDIGEQLDSEDLASLKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLN
TRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDIL
KRVCAQINKSLLKIINDYEEFSKERSSSLEGSPDEFSNGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIIN
NHNFAKAREKVPKLHSIRDRNGTHLDAGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDK
GIIYGTDGQEAPIYELTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFL
LGMATVNNCVSYRNPAEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD*

Gene Symbol:CASP8
Accession:NM_001400655
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFSRNLYDIGEQLDSEDLASLKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLN
TRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDIL
KRVCAQINKSLLKIINDYEEFSKERSSSLEGSPDEFSNGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIIN
NHNFAKAREKVPKLHSIRDRNGTHLDAGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDK
GIIYGTDGQEAPIYELTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFL
LGMATVNNCVSYRNPAEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD*

Gene Symbol:CASP8
Accession:XM_047445959
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFSRNLYDIGEQLDSEDLASLKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLN
TRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDIL
KRVCAQINKSLLKIINDYEEFSKGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIINNHNFAKAREKVPKLH
SIRDRNGTHLDAGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDKGIIYGTDGQEAPIYE
LTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFLLGMATVNNCVSYRNP
AEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD*

Gene Symbol:CASP8
Accession:XM_005246893
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGGRRARVVIESKRNFFLGAFPTPFPAEHVELGRLGDSETAMVPGKGGADYILLPFKKMDFSRNLYDIGEQLDSEDLAS
LKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLNTRKEEMERELQTPGRAQISAY
RVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDILKRVCAQINKSLLKIINDYEEF
SKERSSSLEGSPDEFSNDFGQSLPNEKQTSGILSDHQQSQFCKSTGESAQTSQH*

Gene Symbol:CASP8
Accession:NM_001400648
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFSRNLYDIGEQLDSEDLASLKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLN
TRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDIL
KRVCAQINKSLLKIINDYEEFSKERSSSLEGSPDEFSNGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIIN
NHNFAKAREKVPKLHSIRDRNGTHLDAGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDK
GIIYGTDGQEAPIYELTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFL
LGMATVNNCVSYRNPAEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD*

Gene Symbol:CASP8
Accession:XM_047445961
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGGRRARVVIESKRNFFLGAFPTPFPAEHVELGRLGDSETAMVPGKGGADYILLPFKKMDFSRNLYDIGEQLDSEDLAS
LKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLNTRKEEMERELQTPGRAQISAY
RVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDILKRVCAQINKSLLKIINDYEEF
SKEAAALKEVLMNFQMTLDKVYQMKSKPRGYCLIINNHNFAKAREKVPKLHSIRDRNGTHLDAGALTTTFEELHFEIKPH
DDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDKGIIYGTDGQEAPIYELTSQFTGLKCPSLAGKPKVFFIQACQGDN
YQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFLLGMATVNNCVSYRNPAEGTWYIQSLCQSLRERCPRGDDILTILT
EVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD*

Gene Symbol:CASP8
Accession:NM_001400656
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFSRNLYDIGEQLDSEDLASLKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLN
TRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDIL
KRVCAQINKSLLKIINDYEEFSKERSSSLEGSPDEFSNGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIIN
NHNFAKAREKVPKLHSIRDRNGTHLDAGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDK
GIIYGTDGQEAPIYELTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFL
LGMATVNNCVSYRNPAEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD*

Gene Symbol:CASP8
Accession:NM_001400668
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFSRNLYDIGEQLDSEDLASLKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLN
TRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDIL
KRVCAQINKSLLKIINDYEEFSKGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDKGIIY
GTDGQEAPIYELTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFLLGMA
TVNNCVSYRNPAEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD*

Gene Symbol:CASP8
Accession:NM_001400653
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFSRNLYDIGEQLDSEDLASLKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLN
TRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDIL
KRVCAQINKSLLKIINDYEEFSKERSSSLEGSPDEFSNGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIIN
NHNFAKAREKVPKLHSIRDRNGTHLDAGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDK
GIIYGTDGQEAPIYELTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFL
LGMATVNNCVSYRNPAEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD*

Gene Symbol:CASP8
Accession:NM_001400651
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFSRNLYDIGEQLDSEDLASLKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLN
TRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDIL
KRVCAQINKSLLKIINDYEEFSKERSSSLEGSPDEFSNGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIIN
NHNFAKAREKVPKLHSIRDRNGTHLDAGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDK
GIIYGTDGQEAPIYELTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFL
LGMATVNNCVSYRNPAEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD*

Gene Symbol:CASP8
Accession:NM_001400663
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFSRNLYDIGEQLDSEDLASLKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLN
TRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDIL
KRVCAQINKSLLKIINDYEEFSKGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIINNHNFAKAREKVPKLH
SIRDRNGTHLDAGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDKGIIYGTDGQEAPIYE
LTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFLLGMATVNNCVSYRNP
AEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD*

Gene Symbol:CASP8
Accession:NM_001400662
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFSRNLYDIGEQLDSEDLASLKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLN
TRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDIL
KRVCAQINKSLLKIINDYEEFSKGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIINNHNFAKAREKVPKLH
SIRDRNGTHLDAGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDKGIIYGTDGQEAPIYE
LTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFLLGMATVNNCVSYRNP
AEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD*

Gene Symbol:CASP8
Accession:NM_001400666
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFSRNLYDIGEQLDSEDLASLKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLN
TRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDIL
KRVCAQINKSLLKIINDYEEFSKERSSSLEGSPDEFSNGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDC
FICCILSHGDKGIIYGTDGQEAPIYELTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQ
TRYIPDEADFLLGMATVNNCVSYRNPAEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFT
LRKKLVFPSD*

Gene Symbol:CASP8
Accession:NM_001400642
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGGRRARVVIESKRNFFLGAFPTPFPAEHVELGRLGDSETAMVPGKGGADYILLPFKKMDFSRNLYDIGEQLDSEDLAS
LKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLNTRKEEMERELQTPGRAQISAY
RVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDILKRVCAQINKSLLKIINDYEEF
SKGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIINNHNFAKAREKVPKLHSIRDRNGTHLDAGALTTTFEE
LHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDKGIIYGTDGQEAPIYELTSQFTGLKCPSLAGKPKVFF
IQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFLLGMATVNNCVSYRNPAEGTWYIQSLCQSLRERCPRG
DDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD*

Gene Symbol:CASP8
Accession:NM_001400654
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFSRNLYDIGEQLDSEDLASLKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLN
TRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDIL
KRVCAQINKSLLKIINDYEEFSKERSSSLEGSPDEFSNGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIIN
NHNFAKAREKVPKLHSIRDRNGTHLDAGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDK
GIIYGTDGQEAPIYELTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFL
LGMATVNNCVSYRNPAEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD*

Gene Symbol:CASP8
Accession:NM_001400667
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFSRNLYDIGEQLDSEDLASLKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLN
TRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDIL
KRVCAQINKSLLKIINDYEEFSKGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDKGIIY
GTDGQEAPIYELTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFLLGMA
TVNNCVSYRNPAEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD*

Gene Symbol:CASP8
Accession:NM_001400679
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFSRNLYDIGEQLDSEDLASLKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLN
TRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDIL
KRVCAQINKSLLKIINDYEEFSKERSSSLEGSPDEFSNDFGQSLPNEKQTSGILSDHQQSQFCKSTGESAQTSQH*

Gene Symbol:CASP8
Accession:NM_001400645
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFSRNLYDIGEQLDSEDLASLKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLN
TRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDIL
KRVCAQINKSLLKIINDYEEFSKERSSSLEGSPDEFSNGWRAVAPSRLTAISASQVQAILLPQPPEKLGLQTLDKVYQMK
SKPRGYCLIINNHNFAKAREKVPKLHSIRDRNGTHLDAGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDC
FICCILSHGDKGIIYGTDGQEAPIYELTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQ
TRYIPDEADFLLGMATVNNCVSYRNPAEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFT
LRKKLVFPSD*

Gene Symbol:CASP8
Accession:NM_001400670
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFSRNLYDIGEQLDSEDLASLKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLN
TRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDIL
KRVCAQINKSLLKIINDYEEFSKERSSSLEGSPDEFSNGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIIN
NHNFAKAREKVPKLHSIRDRNGTHLDAEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFT
LRKKLVFPSD*

Gene Symbol:CASP8
Accession:NM_001400659
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFSRNLYDIGEQLDSEDLASLKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLN
TRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDIL
KRVCAQINKSLLKIINDYEEFSKGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIINNHNFAKAREKVPKLH
SIRDRNGTHLDAGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDKGIIYGTDGQEAPIYE
LTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFLLGMATVNNCVSYRNP
AEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD*

Gene Symbol:CASP8
Accession:NM_033355
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFSRNLYDIGEQLDSEDLASLKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLN
TRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDIL
KRVCAQINKSLLKIINDYEEFSKERSSSLEGSPDEFSNGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIIN
NHNFAKAREKVPKLHSIRDRNGTHLDAGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDK
GIIYGTDGQEAPIYELTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFL
LGMATVNNCVSYRNPAEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD*

Gene Symbol:CASP8
Accession:NM_001400661
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFSRNLYDIGEQLDSEDLASLKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLN
TRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDIL
KRVCAQINKSLLKIINDYEEFSKGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIINNHNFAKAREKVPKLH
SIRDRNGTHLDAGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDKGIIYGTDGQEAPIYE
LTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFLLGMATVNNCVSYRNP
AEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD*

Gene Symbol:CASP8
Accession:NM_001400660
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFSRNLYDIGEQLDSEDLASLKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLN
TRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDIL
KRVCAQINKSLLKIINDYEEFSKGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIINNHNFAKAREKVPKLH
SIRDRNGTHLDAGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDKGIIYGTDGQEAPIYE
LTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFLLGMATVNNCVSYRNP
AEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD*

Gene Symbol:CASP8
Accession:NM_001400664
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFSRNLYDIGEQLDSEDLASLKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLN
TRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDIL
KRVCAQINKSLLKIINDYEEFSKEAAALKEVLMNFQMTLDKVYQMKSKPRGYCLIINNHNFAKAREKVPKLHSIRDRNGT
HLDAGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDKGIIYGTDGQEAPIYELTSQFTGL
KCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFLLGMATVNNCVSYRNPAEGTWYIQ
SLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD*

Gene Symbol:CASP8
Accession:NM_001228
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFSRNLYDIGEQLDSEDLASLKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLN
TRKEEMERELQTPGRAQISAYRFHFCRMSWAEANSQCQTQSVPFWRRVDHLLIRVMLYQISEEVSRSELRSFKFLLQEEI
SKCKLDDDMNLLDIFIEMEKRVILGEGKLDILKRVCAQINKSLLKIINDYEEFSKGEELCGVMTISDSPREQDSESQTLD
KVYQMKSKPRGYCLIINNHNFAKAREKVPKLHSIRDRNGTHLDAGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMD
HSNMDCFICCILSHGDKGIIYGTDGQEAPIYELTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEM
DLSSPQTRYIPDEADFLLGMATVNNCVSYRNPAEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQM
PQPTFTLRKKLVFPSD*

Gene Symbol:CASP8
Accession:NM_001400657
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFSRNLYDIGEQLDSEDLASLKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLN
TRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDIL
KRVCAQINKSLLKIINDYEEFSKERSSSLEGSPDEFSNGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIIN
NHNFAKAREKVPKLHSIRDRNGTHLDAGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDK
GIIYGTDGQEAPIYELTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFL
LGMATVNNCVSYRNPAEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD*

Gene Symbol:CASP8
Accession:NM_001400665
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGGRRARVVIESKRNFFLGAFPTPFPAEHVELGRLGDSETAMVPGKGGADYILLPFKKMDFSRNLYDIGEQLDSEDLAS
LKFLSLDYILQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLNTRKEEMERELQTPGRAQISAY
RVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDILKRVCAQINKSLLKIINDYEEF
SKGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDKGIIYGTDGQEAPIYELTSQFTGLKC
PSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFLLGMATVNNCVSYRNPAEGTWYIQSL
CQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD*

Gene Symbol:CASP8
Accession:NR_174565
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174593
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174581
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174600
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174592
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:XR_007082539
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174584
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174601
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174594
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174595
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174589
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174583
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174599
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_111983
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174598
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174586
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174596
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174602
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174591
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:XR_007082538
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174590
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174585
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174588
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174564
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:XM_011511969
Location:INTRON

Gene Symbol:CASP8
Accession:NR_174582
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:26193622   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001326214 CLINVAR
dbSNP (RS) rs748087575 CLINVAR
MedGen C1846545 CLINVAR
NCBI Gene CASP8 CLINVAR
OMIM 601763 CLINVAR
  607271 CLINVAR