RGD:155932418 Rat Genome Database

RGD ID:

155932418

ClinVar ID:

CV2400020

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	11	74,984,003
GRCh38	11	75,272,959

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NP_004032.2:p.Arg312Cys NP_064647.1:p.Arg312Cys NM_004041.5:c.934C>T NM_020251.4:c.934C>T More...	12/21/2022	missense variant	uncertain significance

Disease Annotations Click to see Annotation Detail View

Variant Details

Variant Transcripts

Gene Symbol:	ARRB1
Accession:	XM_017017753
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	307

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGVFKKASPNGKLTVYLGKRDFVDHIDLVDPVDGVVLVDPEYLKERRVYVTLTCAFRYGREDLDVLGLTFRKDLFVANVQ SFPPAPEDKKPLTRLQERLIKKLGEHAYPFTFEIPPNLPCSVTLQPGPEDTGKACGVDYEVKAFCAENLEEKIHKRNSVR LVIRKVQYAPERPGPQPTAETTRQFLMSDKPLHLEASLDKEIYYHGEPISVNVHVTNNTNKTVKKIKISVRQYADICLFN TAQYKCPVAMEEADDTVAPSSTFCKVYTLTPFLANNREKRGLALDGKLKHEDTNLASSTLLREGANCEILGIIVSYKVKV KLVVSRGGLLGDLASSDVAVELPFTLMHPKPKEEPPHREVPENETPVDTNLIELDTNQRPSSHRTVARGGGPGPTARTAS SDDDIVFEDFARQRLKGMKDDKEEEEDGTGSPQLNNR*

Gene Symbol:	ARRB1
Accession:	XM_017017751
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	343

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEGDLQRERLRLHARRIQTLAFHPPQHPGAGCVALLSRVFKKASPNGKLTVYLGKRDFVDHIDLVDPVDGVVLVDPEYLK ERRVYVTLTCAFRYGREDLDVLGLTFRKDLFVANVQSFPPAPEDKKPLTRLQERLIKKLGEHAYPFTFEIPPNLPCSVTL QPGPEDTGKACGVDYEVKAFCAENLEEKIHKRNSVRLVIRKVQYAPERPGPQPTAETTRQFLMSDKPLHLEASLDKEIYY HGEPISVNVHVTNNTNKTVKKIKISVRQYADICLFNTAQYKCPVAMEEADDTVAPSSTFCKVYTLTPFLANNREKRGLAL DGKLKHEDTNLASSTLLREGANCEILGIIVSYKVKVKLVVSRGGDVAVELPFTLMHPKPKEEPPHREVPENETPVDTNLI ELDTNQRPSSHRTVARGGGPGPTARTASSDDDIVFEDFARQRLKGMKDDKEEEEDGTGSPQLNNR*

Gene Symbol:	ARRB1
Accession:	XM_017017754
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	312

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGDKGTRVFKKASPNGKLTVYLGKRDFVDHIDLVDPVDGVVLVDPEYLKERRVYVTLTCAFRYGREDLDVLGLTFRKDLF VANVQSFPPAPEDKKPLTRLQERLIKKLGEHAYPFTFEIPPNLPCSVTLQPGPEDTGKACGVDYEVKAFCAENLEEKIHK RNSVRLVIRKVQYAPERPGPQPTAETTRQFLMSDKPLHLEASLDKEIYYHGEPISVNVHVTNNTNKTVKKIKISVRQYAD ICLFNTAQYKCPVAMEEADDTVAPSSTFCKVYTLTPFLANNREKRGLALDGKLKHEDTNLASSTLLREGANCEILGIIVS YKVKVKLVVSRGGDVAVELPFTLMHPKPKEEPPHREVPENETPVDTNLIELDTNQRPSSHRTVARGGGPGPTARTASSDD DIVFEDFARQRLKGMKDDKEEEEDGTGSPQLNNR*

Gene Symbol:	ARRB1
Accession:	NM_004041
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	312

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGDKGTRVFKKASPNGKLTVYLGKRDFVDHIDLVDPVDGVVLVDPEYLKERRVYVTLTCAFRYGREDLDVLGLTFRKDLF VANVQSFPPAPEDKKPLTRLQERLIKKLGEHAYPFTFEIPPNLPCSVTLQPGPEDTGKACGVDYEVKAFCAENLEEKIHK RNSVRLVIRKVQYAPERPGPQPTAETTRQFLMSDKPLHLEASLDKEIYYHGEPISVNVHVTNNTNKTVKKIKISVRQYAD ICLFNTAQYKCPVAMEEADDTVAPSSTFCKVYTLTPFLANNREKRGLALDGKLKHEDTNLASSTLLREGANCEILGIIVS YKVKVKLVVSRGGLLGDLASSDVAVELPFTLMHPKPKEEPPHREVPENETPVDTNLIELDTNDDDIVFEDFARQRLKGMK DDKEEEEDGTGSPQLNNR*

Gene Symbol:	ARRB1
Accession:	XM_017017752
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	312

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGDKGTRVFKKASPNGKLTVYLGKRDFVDHIDLVDPVDGVVLVDPEYLKERRVYVTLTCAFRYGREDLDVLGLTFRKDLF VANVQSFPPAPEDKKPLTRLQERLIKKLGEHAYPFTFEIPPNLPCSVTLQPGPEDTGKACGVDYEVKAFCAENLEEKIHK RNSVRLVIRKVQYAPERPGPQPTAETTRQFLMSDKPLHLEASLDKEIYYHGEPISVNVHVTNNTNKTVKKIKISVRQYAD ICLFNTAQYKCPVAMEEADDTVAPSSTFCKVYTLTPFLANNREKRGLALDGKLKHEDTNLASSTLLREGANCEILGIIVS YKVKVKLVVSRGGLLGDLASSDVAVELPFTLMHPKPKEEPPHREVPENETPVDTNLIELDTNQRPSSHRTVARGGGPGPT ARTASSDDDIVFEDFARQRLKGMKDDKEEEEDGTGSPQLNNR*

Gene Symbol:	ARRB1
Accession:	NM_020251
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	312

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGDKGTRVFKKASPNGKLTVYLGKRDFVDHIDLVDPVDGVVLVDPEYLKERRVYVTLTCAFRYGREDLDVLGLTFRKDLF VANVQSFPPAPEDKKPLTRLQERLIKKLGEHAYPFTFEIPPNLPCSVTLQPGPEDTGKACGVDYEVKAFCAENLEEKIHK RNSVRLVIRKVQYAPERPGPQPTAETTRQFLMSDKPLHLEASLDKEIYYHGEPISVNVHVTNNTNKTVKKIKISVRQYAD ICLFNTAQYKCPVAMEEADDTVAPSSTFCKVYTLTPFLANNREKRGLALDGKLKHEDTNLASSTLLREGANCEILGIIVS YKVKVKLVVSRGGDVAVELPFTLMHPKPKEEPPHREVPENETPVDTNLIELDTNDDDIVFEDFARQRLKGMKDDKEEEED GTGSPQLNNR*

Gene Symbol:	ARRB1
Accession:	XM_017017750
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	343

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEGDLQRERLRLHARRIQTLAFHPPQHPGAGCVALLSRVFKKASPNGKLTVYLGKRDFVDHIDLVDPVDGVVLVDPEYLK ERRVYVTLTCAFRYGREDLDVLGLTFRKDLFVANVQSFPPAPEDKKPLTRLQERLIKKLGEHAYPFTFEIPPNLPCSVTL QPGPEDTGKACGVDYEVKAFCAENLEEKIHKRNSVRLVIRKVQYAPERPGPQPTAETTRQFLMSDKPLHLEASLDKEIYY HGEPISVNVHVTNNTNKTVKKIKISVRQYADICLFNTAQYKCPVAMEEADDTVAPSSTFCKVYTLTPFLANNREKRGLAL DGKLKHEDTNLASSTLLREGANCEILGIIVSYKVKVKLVVSRGGLLGDLASSDVAVELPFTLMHPKPKEEPPHREVPENE TPVDTNLIELDTNQRPSSHRTVARGGGPGPTARTASSDDDIVFEDFARQRLKGMKDDKEEEEDGTGSPQLNNR*

Gene Symbol:	ARRB1
Accession:	XM_011545034
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	343

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEGDLQRERLRLHARRIQTLAFHPPQHPGAGCVALLSRVFKKASPNGKLTVYLGKRDFVDHIDLVDPVDGVVLVDPEYLK ERRVYVTLTCAFRYGREDLDVLGLTFRKDLFVANVQSFPPAPEDKKPLTRLQERLIKKLGEHAYPFTFEIPPNLPCSVTL QPGPEDTGKACGVDYEVKAFCAENLEEKIHKRNSVRLVIRKVQYAPERPGPQPTAETTRQFLMSDKPLHLEASLDKEIYY HGEPISVNVHVTNNTNKTVKKIKISVRQYADICLFNTAQYKCPVAMEEADDTVAPSSTFCKVYTLTPFLANNREKRGLAL DGKLKHEDTNLASSTLLREGANCEILGIIVSYKVKVKLVVSRGGLLGDLASSDVAVELPFTLMHPKPKEEPPHREVPENE TPVDTNLIELDTNDDDIVFEDFARQRLKGMKDDKEEEEDGTGSPQLNNR*

Gene Symbol:	ARRB1
Accession:	XM_011545035
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	343

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEGDLQRERLRLHARRIQTLAFHPPQHPGAGCVALLSRVFKKASPNGKLTVYLGKRDFVDHIDLVDPVDGVVLVDPEYLK ERRVYVTLTCAFRYGREDLDVLGLTFRKDLFVANVQSFPPAPEDKKPLTRLQERLIKKLGEHAYPFTFEIPPNLPCSVTL QPGPEDTGKACGVDYEVKAFCAENLEEKIHKRNSVRLVIRKVQYAPERPGPQPTAETTRQFLMSDKPLHLEASLDKEIYY HGEPISVNVHVTNNTNKTVKKIKISVRQYADICLFNTAQYKCPVAMEEADDTVAPSSTFCKVYTLTPFLANNREKRGLAL DGKLKHEDTNLASSTLLREGANCEILGIIVSYKVKVKLVVSRGGDVAVELPFTLMHPKPKEEPPHREVPENETPVDTNLI ELDTNDDDIVFEDFARQRLKGMKDDKEEEEDGTGSPQLNNR*

Variant Samples

Additional Information

External Database Links

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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