RGD:8598998 Rat Genome Database

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Variant: RGD:8598998 -  Homo sapiens

RGD ID: 8598998
RS ID: rs28934573
ClinVar ID: CV27398
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TP53  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 7,577,559
GRCh38 17 7,674,241
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_321:g.18310C>T
NG_017013.2:g.18310C>T
NC_000017.11:g.7674241G>A
NC_000017.10:g.7577559G>A
More...
06/18/2022 missense|missense variant pathogenic|likely pathogenic adult|all ages|childhood 1-5 / 10 000|1-9 / 1 000 000|1-9 / 100 000|20-30% her2-positive cases for metastatic carcinomas, and only 11% of the screen-detected breast carcinomas displayed her2/neu gene amplification. Adenocarcinoma of lung; Adenocarcinoma of lung, somatic; Basal cell carcinoma, susceptibility to, 7; Bone marrow failure syndrome 5; Bone osteosarcoma; Brain neoplasm; Brain Neoplasms; Brain tumour; Breast cancer, familial; Breast Neoplasms; Breast tumor; Cancer predisposition; Carcinoma of gallbladder; Carcinoma of pancreas; Carcinoma, squamous cell of head and neck; Choroid plexus papilloma; Colorectal cancer; Colorectal cancer, somatic; Colorectal neoplasm; Colorectal Neoplasms; Cutaneous melanoma; Esophageal carcinoma; Exocrine pancreatic carcinoma; Familial cancer of breast; Giant cell glioblastoma (histologic variant); Glioblastoma, somatic; Glioma susceptibility 1; Gliosarcoma (histologic variant); Head and neck squamous cell carcinoma; Hepatocellular cancer; Hepatocellular carcinoma; Hepatoma; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Li-Fraumeni syndrome 1; LIVER CELL CARCINOMA; LYMPHOMA, NON-HODGKIN, SOMATIC; Malignant Colorectal Neoplasm; Malignant lymphoma, non-Hodgkin; Malignant melanoma, somatic; Nasopharyngeal carcinoma; Nasopharyngeal carcinoma, somatic; Neoplasm of breast; Neoplasm of the breast; Neoplastic Syndromes, Hereditary; none provided; Oesophageal carcinoma; Osteosarcoma, somatic; OVARIAN CANCER, SOMATIC; Ovarian neoplasm; Ovarian Neoplasms; Ovarian tumor; PANCREATIC ACINAR CARCINOMA; Pancreatic cancer, somatic; PANCREATIC CARCINOMA; Pancreatic carcinoma, somatic; Papilloma of choroid plexus; Primary carcinoma of liver; Renal adenocarcinoma; Renal cell carcinoma 1; RENAL CELL CARCINOMA, PAPILLARY, 1, SOMATIC; Renal cell carcinoma, somatic; Sarcoma family syndrome of Li and Fraumeni; Squamous cell carcinoma, head and neck, somatic; Tumor predisposition

Variant Details
Variant Transcripts
Gene Symbol:TP53
Accession:NM_001126112
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP
TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM
AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
FCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK
KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_000546
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP
TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM
AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
FCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK
KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001126113
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP
TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM
AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
FCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK
KPLDGEYFTLQMLLDLRWCYFLINSS*

Gene Symbol:TP53
Accession:NM_001126114
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP
TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM
AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
FCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK
KPLDGEYFTLQDQTSFQKENC*

Gene Symbol:TP53
Accession:NM_001126115
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTF
RHSVVVPYEPPEVGSDCTTIHYNYMCNSFCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKK
GEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSK
KGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001126117
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTF
RHSVVVPYEPPEVGSDCTTIHYNYMCNSFCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKK
GEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQMLLDLRWCYFLINSS*

Gene Symbol:TP53
Accession:NM_001126116
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTF
RHSVVVPYEPPEVGSDCTTIHYNYMCNSFCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKK
GEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC*

Gene Symbol:TP53
Accession:NM_001126118
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSFCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP
GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001276761
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSFCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP
GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001276760
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSFCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP
GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001276695
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSFCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQMLLDLRWCYFLINSS*

Gene Symbol:TP53
Accession:NM_001276696
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSFCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC*

Gene Symbol:TP53
Accession:NM_001276697
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCN
SFCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPK
KKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001276699
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCN
SFCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPK
KKPLDGEYFTLQMLLDLRWCYFLINSS*

Gene Symbol:TP53
Accession:NM_001276698
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCN
SFCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPK
KKPLDGEYFTLQDQTSFQKENC*

Gene Symbol:TP53
Accession:NM_001407269
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSFCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC*

Gene Symbol:TP53
Accession:NM_001407268
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP
TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM
AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
FCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK
KPLDGEYFTLQDQTSFQKENC*

Gene Symbol:TP53
Accession:NM_001407262
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP
TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM
AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
FCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK
KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001407263
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSFCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP
GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001407265
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSFCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP
GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001407264
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP
TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM
AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
FCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK
KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001407266
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP
TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM
AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
FCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK
KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001407267
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSFCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP
GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001407270
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP
TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM
AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
FCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK
KPLDGEYFTLQDQTSFQKENC*

Gene Symbol:TP53
Accession:NM_001407271
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSFCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC*

Gene Symbol:TP53
Accession:NR_176326
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:1565143   PMID:8401536   PMID:8633021   PMID:12826609   PMID:17606709   PMID:19556618   PMID:20128691   PMID:21343334   PMID:22887876   PMID:23031740   PMID:23259501   PMID:25584008  
PMID:25741868   PMID:26467025   PMID:26585234   PMID:26619011   PMID:26911350   PMID:27189670   PMID:28279309   PMID:28492532   PMID:28975465   PMID:29070607   PMID:29979965   PMID:30224644  
PMID:31775759   PMID:32475984   PMID:32817165   PMID:33087929  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000013153 CLINVAR
  RCV000013154 CLINVAR
  RCV000130168 CLINVAR
  RCV000417576 CLINVAR
  RCV000418653 CLINVAR
  RCV000421750 CLINVAR
  RCV000422867 CLINVAR
  RCV000423921 CLINVAR
  RCV000426268 CLINVAR
  RCV000426907 CLINVAR
  RCV000428255 CLINVAR
  RCV000429321 CLINVAR
  RCV000430665 CLINVAR
  RCV000433125 CLINVAR
  RCV000434173 CLINVAR
  RCV000435867 CLINVAR
  RCV000436527 CLINVAR
  RCV000436959 CLINVAR
  RCV000438965 CLINVAR
  RCV000441398 CLINVAR
  RCV000441622 CLINVAR
  RCV000444801 CLINVAR
  RCV000559355 CLINVAR
  RCV000785290 CLINVAR
  RCV001255673 CLINVAR
  RCV002288485 CLINVAR
  RCV002496336 CLINVAR
  RCV003114189 CLINVAR
dbSNP (RS) rs28934573 CLINVAR
MedGen C0006118 CLINVAR
  C0009404 CLINVAR
  C0017636 CLINVAR
  C0024305 CLINVAR
  C0027672 CLINVAR
  C0085390 CLINVAR
  C0151779 CLINVAR
  C0152013 CLINVAR
  C0152018 CLINVAR
  C0153574 CLINVAR
  C0206624 CLINVAR
  C0220641 CLINVAR
  C0235782 CLINVAR
  C0279663 CLINVAR
  C0279680 CLINVAR
  C0280630 CLINVAR
  C0281361 CLINVAR
  C0553723 CLINVAR
  C0585442 CLINVAR
  C0677865 CLINVAR
  C0919267 CLINVAR
  C1168401 CLINVAR
  C1336078 CLINVAR
  C1336839 CLINVAR
  C1458155 CLINVAR
  C1835398 CLINVAR
  C1859972 CLINVAR
  C3661900 CLINVAR
NCBI Gene TP53 CLINVAR
OMIM 114480 CLINVAR
  114500 CLINVAR
  114550 CLINVAR
  137800 CLINVAR
  151623 CLINVAR
  167000 CLINVAR
  191170 CLINVAR
  202300 CLINVAR
  259500 CLINVAR
  260350 CLINVAR
  260500 CLINVAR
  275355 CLINVAR
  605027 CLINVAR
  605074 CLINVAR
  607107 CLINVAR
  614740 CLINVAR
  618165 CLINVAR
OMIM Allele 191170.0013 CLINVAR
SNOMED CT 123843001 CLINVAR
  126837005 CLINVAR
  126926005 CLINVAR
  126952004 CLINVAR
  1929004 CLINVAR
  254843006 CLINVAR
  428850001 CLINVAR
  63634009 CLINVAR
  699346009 CLINVAR
  716659002 CLINVAR
  93655004 CLINVAR