RGD:13517605 Rat Genome Database

Variant: RGD:13517605 - Homo sapiens

RGD ID:

13517605

RS ID:

rs199835958

ClinVar ID:

CV491722

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

HOMER2

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	15	83,523,404
GRCh38	15	82,854,652

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NP_955362.1:p.Arg226Cys NC_000015.10:g.82854652G>A NC_000015.9:g.83523404G>A NP_004830.2:p.Arg215Cys More...	04/05/2019	missense variant	conflicting interpretations of pathogenicity\|uncertain significance	none provided

Variant Details

Variant Transcripts

Gene Symbol:	HOMER2
Accession:	XM_047433360
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	202

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPASKQAVTVSYFYDVTRNSYRIISVDGAKVIINSTITPNMTFTKTSQKFGQWADSRANTVFGLGFSSEQQLTKFAEKFQ EVKEAAKIAKDKTQEKIETSSNHSQESGRETPSSTQASSVNGTDDEKASHAGPANTHLKSENDKLKIALTQSAANVKKWE IELQTLRESNARLTTALQESAASVEQWKRQFSICRDENDRLCNKIDELEEQCSEINREKEKNTQLKRRIEELEAELREKE TELKDLRKQSEIIPQLMSECEYVSEKLEAAERDNQNLEDKVRSLKTDIEESKYRQRHLKVELKSFLEVLDGKIDDLHDFR RGLSKLGTDN*

Gene Symbol:	HOMER2
Accession:	XM_006720775
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	236

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLKMMEVYKEPREQPIFTTRAHVFQIDPNTKKNWMPASKQAVTVSYFYDVTRNSYRIISVDGAKVIINSTITPNMTFTKT SQKFGQWADSRANTVFGLGFSSEQQLTKFAEKFQEVKEAAKIAKDKTQEKIETSSNHSQESGRETPSSTQASSVNGTDDE KASHAGPANTHLKSENDKLKIALTQSAANVKKWEIELQTLRESNARLTTALQESAASVEQWKRQFSICRDENDRLCNKID ELEEQCSEINREKEKNTQLKRRIEELEAELREKETELKDLRKQSEIIPQLMSECEYVSEKLEAAERDNQNLEDKVRSLKT DIEESKYRQRHLKVELKSFLEVLDGKIDDLHDFRRGLSKLGTDN*

Gene Symbol:	HOMER2
Accession:	XM_047433361
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	202

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPASKQAVTVSYFYDVTRNSYRIISVDGAKVIINSTITPNMTFTKTSQKFGQWADSRANTVFGLGFSSEQQLTKFAEKFQ EVKEAAKIAKDKTQEKIETSSNHSQESGRETPSSTQASSVNGTDDEKASHAGPANTHLKSENDKLKIALTQSAANVKKWE IELQTLRESNARLTTALQESAASVEQWKRQFSICRDENDRLCNKIDELEEQCSEINREKEKNTQLKRRIEELEAELREKE TELKDLRKQSEIIPQLMSECEYVSEKLEAAERDNQNLEDKVRSLKTDIEESKYRQRHLKVELKSFLEVLDGKIDDLHDFR RGLSKLGTDN*

Gene Symbol:	HOMER2
Accession:	XM_006720776
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	226

Amino Acid Sequence (Calculated using NCBI transcript definition)
MREQPIFTTRAHVFQIDPNTKKNWMPASKQAVTVSYFYDVTRNSYRIISVDGAKVIINSTITPNMTFTKTSQKFGQWADS RANTVFGLGFSSEQQLTKFAEKFQEVKEAAKIAKDKTQEKIETSSNHSQESGRETPSSTQASSVNGTDDEKASHAGPANT HLKSENDKLKIALTQSAANVKKWEIELQTLRESNARLTTALQESAASVEQWKRQFSICRDENDRLCNKIDELEEQCSEIN REKEKNTQLKRRIEELEAELREKETELKDLRKQSEIIPQLMSECEYVSEKLEAAERDNQNLEDKVRSLKTDIEESKYRQR HLKVELKSFLEVLDGKIDDLHDFRRGLSKLGTDN*

Gene Symbol:	HOMER2
Accession:	XM_011522232
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	236

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLKMMEVYKEPREQPIFTTRAHVFQIDPNTKKNWMPASKQAVTVSYFYDVTRNSYRIISVDGAKVIINSTITPNMTFTKT SQKFGQWADSRANTVFGLGFSSEQQLTKFAEKFQEVKEAAKIAKDKTQEKIETSSNHSQESGRETPSSTQASSVNGTDDE KASHAGPANTHLKSENDKLKIALTQSAANVKKWEIELQTLRESNARLTTALQESAASVEQWKRQFSICRDENDRLCNKID ELEEQCSEINREKEKNTQLKRRIEELEAELREKETELKDLRKQSEIIPQLMSECEYVSEKLEAAERDNQNLEDKVRSLKT DIEESKYRQRHLKVELKSFLEVLDGKIDDLHDFRRGLSKLGTDN*

Gene Symbol:	HOMER2
Accession:	XM_011522233
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	234

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPGARWVGREQPIFTTRAHVFQIDPNTKKNWMPASKQAVTVSYFYDVTRNSYRIISVDGAKVIINSTITPNMTFTKTSQ KFGQWADSRANTVFGLGFSSEQQLTKFAEKFQEVKEAAKIAKDKTQEKIETSSNHSQESGRETPSSTQASSVNGTDDEKA SHAGPANTHLKSENDKLKIALTQSAANVKKWEIELQTLRESNARLTTALQESAASVEQWKRQFSICRDENDRLCNKIDEL EEQCSEINREKEKNTQLKRRIEELEAELREKETELKDLRKQSEIIPQLMSECEYVSEKLEAAERDNQNLEDKVRSLKTDI EESKYRQRHLKVELKSFLEVLDGKIDDLHDFRRGLSKLGTDN*

Gene Symbol:	HOMER2
Accession:	XM_047433357
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	225

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLKMMEVYKEPREQPIFTTRAHVFQIDPNTKKNWMPASKQAVTVSYFYDVTRNSYRIISVDGAKVIINSTITPNMTFTKT SQKFGQWADSRANTVFGLGFSSEQQLTKFAEKFQEVKEAAKIAKDKTQEKIETSSNHSQASSVNGTDDEKASHAGPANTH LKSENDKLKIALTQSAANVKKWEIELQTLRESNARLTTALQESAASVEQWKRQFSICRDENDRLCNKIDELEEQCSEINR EKEKNTQLKRRIEELEAELREKETELKDLRKQSEIIPQLMSECEYVSEKLEAAERDNQNLEDKVRSLKTDIEESKYRQRH LKVELKSFLEVLDGKIDDLHDFRRGLSKLGTDN*

Gene Symbol:	HOMER2
Accession:	NM_199330
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	226

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGEQPIFTTRAHVFQIDPNTKKNWMPASKQAVTVSYFYDVTRNSYRIISVDGAKVIINSTITPNMTFTKTSQKFGQWADS RANTVFGLGFSSEQQLTKFAEKFQEVKEAAKIAKDKTQEKIETSSNHSQESGRETPSSTQASSVNGTDDEKASHAGPANT HLKSENDKLKIALTQSAANVKKWEIELQTLRESNARLTTALQESAASVEQWKRQFSICRDENDRLCNKIDELEEQCSEIN REKEKNTQLKRRIEELEAELREKETELKDLRKQSEIIPQLMSECEYVSEKLEAAERDNQNLEDKVRSLKTDIEESKYRQR HLKVELKSFLEVLDGKIDDLHDFRRGLSKLGTDN*

Gene Symbol:	HOMER2
Accession:	XM_047433359
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	215

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGEQPIFTTRAHVFQIDPNTKKNWMPASKQAVTVSYFYDVTRNSYRIISVDGAKVIINSTITPNMTFTKTSQKFGQWADS RANTVFGLGFSSEQQLTKFAEKFQEVKEAAKIAKDKTQEKIETSSNHSQASSVNGTDDEKASHAGPANTHLKSENDKLKI ALTQSAANVKKWEIELQTLRESNARLTTALQESAASVEQWKRQFSICRDENDRLCNKIDELEEQCSEINREKEKNTQLKR RIEELEAELREKETELKDLRKQSEIIPQLMSECEYVSEKLEAAERDNQNLEDKVRSLKTDIEESKYRQRHLKVELKSFLE VLDGKIDDLHDFRRGLSKLGTDN*

Gene Symbol:	HOMER2
Accession:	XM_005272449
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	215

Amino Acid Sequence (Calculated using NCBI transcript definition)
MREQPIFTTRAHVFQIDPNTKKNWMPASKQAVTVSYFYDVTRNSYRIISVDGAKVIINSTITPNMTFTKTSQKFGQWADS RANTVFGLGFSSEQQLTKFAEKFQEVKEAAKIAKDKTQEKIETSSNHSQASSVNGTDDEKASHAGPANTHLKSENDKLKI ALTQSAANVKKWEIELQTLRESNARLTTALQESAASVEQWKRQFSICRDENDRLCNKIDELEEQCSEINREKEKNTQLKR RIEELEAELREKETELKDLRKQSEIIPQLMSECEYVSEKLEAAERDNQNLEDKVRSLKTDIEESKYRQRHLKVELKSFLE VLDGKIDDLHDFRRGLSKLGTDN*

Gene Symbol:	HOMER2
Accession:	XM_047433355
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	226

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGEQPIFTTRAHVFQIDPNTKKNWMPASKQAVTVSYFYDVTRNSYRIISVDGAKVIINSTITPNMTFTKTSQKFGQWADS RANTVFGLGFSSEQQLTKFAEKFQEVKEAAKIAKDKTQEKIETSSNHSQESGRETPSSTQASSVNGTDDEKASHAGPANT HLKSENDKLKIALTQSAANVKKWEIELQTLRESNARLTTALQESAASVEQWKRQFSICRDENDRLCNKIDELEEQCSEIN REKEKNTQLKRRIEELEAELREKETELKDLRKQSEIIPQLMSECEYVSEKLEAAERDNQNLEDKVRSLKTDIEESKYRQR HLKVELKSFLEVLDGKIDDLHDFRRGLSKLGTDN*

Gene Symbol:	HOMER2
Accession:	XM_047433356
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	225

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLKMMEVYKEPREQPIFTTRAHVFQIDPNTKKNWMPASKQAVTVSYFYDVTRNSYRIISVDGAKVIINSTITPNMTFTKT SQKFGQWADSRANTVFGLGFSSEQQLTKFAEKFQEVKEAAKIAKDKTQEKIETSSNHSQASSVNGTDDEKASHAGPANTH LKSENDKLKIALTQSAANVKKWEIELQTLRESNARLTTALQESAASVEQWKRQFSICRDENDRLCNKIDELEEQCSEINR EKEKNTQLKRRIEELEAELREKETELKDLRKQSEIIPQLMSECEYVSEKLEAAERDNQNLEDKVRSLKTDIEESKYRQRH LKVELKSFLEVLDGKIDDLHDFRRGLSKLGTDN*

Gene Symbol:	HOMER2
Accession:	XM_047433358
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	215

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGEQPIFTTRAHVFQIDPNTKKNWMPASKQAVTVSYFYDVTRNSYRIISVDGAKVIINSTITPNMTFTKTSQKFGQWADS RANTVFGLGFSSEQQLTKFAEKFQEVKEAAKIAKDKTQEKIETSSNHSQASSVNGTDDEKASHAGPANTHLKSENDKLKI ALTQSAANVKKWEIELQTLRESNARLTTALQESAASVEQWKRQFSICRDENDRLCNKIDELEEQCSEINREKEKNTQLKR RIEELEAELREKETELKDLRKQSEIIPQLMSECEYVSEKLEAAERDNQNLEDKVRSLKTDIEESKYRQRHLKVELKSFLE VLDGKIDDLHDFRRGLSKLGTDN*

Gene Symbol:	HOMER2
Accession:	NM_004839
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	215

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGEQPIFTTRAHVFQIDPNTKKNWMPASKQAVTVSYFYDVTRNSYRIISVDGAKVIINSTITPNMTFTKTSQKFGQWADS RANTVFGLGFSSEQQLTKFAEKFQEVKEAAKIAKDKTQEKIETSSNHSQASSVNGTDDEKASHAGPANTHLKSENDKLKI ALTQSAANVKKWEIELQTLRESNARLTTALQESAASVEQWKRQFSICRDENDRLCNKIDELEEQCSEINREKEKNTQLKR RIEELEAELREKETELKDLRKQSEIIPQLMSECEYVSEKLEAAERDNQNLEDKVRSLKTDIEESKYRQRHLKVELKSFLE VLDGKIDDLHDFRRGLSKLGTDN*

Gene Symbol:	HOMER2
Accession:	XM_047433362
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	202

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPASKQAVTVSYFYDVTRNSYRIISVDGAKVIINSTITPNMTFTKTSQKFGQWADSRANTVFGLGFSSEQQLTKFAEKFQ EVKEAAKIAKDKTQEKIETSSNHSQESGRETPSSTQASSVNGTDDEKASHAGPANTHLKSENDKLKIALTQSAANVKKWE IELQTLRESNARLTTALQESAASVEQWKRQFSICRDENDRLCNKIDELEEQCSEINREKEKNTQLKRRIEELEAELREKE TELKDLRKQSEIIPQLMSECEYVSEKLEAAERDNQNLEDKVRSLKTDIEESKYRQRHLKVELKSFLEVLDGKIDDLHDFR RGLSKLGTDN*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000596644	CLINVAR
dbSNP (RS)	rs199835958	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	HOMER2	CLINVAR
OMIM	604799	CLINVAR

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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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Variant: RGD:13517605 - Homo sapiens