Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | TRPV5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | TRPV5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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TRPV5 (Sus scrofa - pig) |
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TRPV5 (Homo sapiens - human) |
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Variants in TRPV5
2224 total Variants |
alimentary part of gastrointestinal system | circulatory system | endocrine system | hemolymphoid system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | |
High | |||||||||
Medium | 2 | ||||||||
Low | 6 | 2 | 4 | 1 | 2 | 2 | 1 | ||
Below cutoff | 2 | 2 | 1 | 2 | 16 | 1 |
RefSeq Transcripts | XM_003360094 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_021078896 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021078897 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_002340352 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AEMK02000111 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GFLN01062747 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSSSCT00000017933 ⟹ ENSSSCP00000017452 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000057027 ⟹ ENSSSCP00000035081 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000076572 ⟹ ENSSSCP00000063408 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_003360094 ⟹ XP_003360142 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021078896 ⟹ XP_020934555 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021078897 ⟹ XP_020934556 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_002340352 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | XP_003360142 | (Get FASTA) | NCBI Sequence Viewer |
XP_020934555 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020934556 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSSSCP00000017452.4 | ||
ENSSSCP00000035081.2 | |||
ENSSSCP00000063408 | |||
ENSSSCP00000063408.1 | |||
ENSSSCP00005040016.1 | |||
ENSSSCP00015008578.1 | |||
ENSSSCP00025037277.1 | |||
ENSSSCP00030026544.1 | |||
ENSSSCP00040043598.1 | |||
ENSSSCP00045013702.1 | |||
ENSSSCP00065040454.1 |
RefSeq Acc Id: | XP_020934555 ⟸ XM_021078896 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A480QGB9 (UniProtKB/TrEMBL), A0A8D1G440 (UniProtKB/TrEMBL), A0A8D0SWK0 (UniProtKB/TrEMBL), A0A8D0MU24 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_003360142 ⟸ XM_003360094 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A480QGB9 (UniProtKB/TrEMBL), A0A8D1G440 (UniProtKB/TrEMBL), A0A8D0SWK0 (UniProtKB/TrEMBL), A0A8D0MU24 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020934556 ⟸ XM_021078897 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8D0SWK0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSSSCP00000063408 ⟸ ENSSSCT00000076572 |
RefSeq Acc Id: | ENSSSCP00000035081 ⟸ ENSSSCT00000057027 |
RefSeq Acc Id: | ENSSSCP00000017452 ⟸ ENSSSCT00000017933 |
Database | Acc Id | Source(s) |
Ensembl Genes | ENSSSCG00000016469 | Ensembl, UniProtKB/TrEMBL |
ENSSSCG00000062134 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL | |
ENSSSCG00005040342 | UniProtKB/TrEMBL | |
ENSSSCG00015016301 | UniProtKB/TrEMBL | |
ENSSSCG00025060239 | UniProtKB/TrEMBL | |
ENSSSCG00030041830 | UniProtKB/TrEMBL | |
ENSSSCG00040071039 | UniProtKB/TrEMBL | |
ENSSSCG00045011511 | UniProtKB/TrEMBL | |
ENSSSCG00065067234 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSSSCT00000017933.4 | UniProtKB/TrEMBL |
ENSSSCT00000057027.2 | UniProtKB/TrEMBL | |
ENSSSCT00000076572 | ENTREZGENE | |
ENSSSCT00000076572.2 | UniProtKB/TrEMBL | |
ENSSSCT00005064774.1 | UniProtKB/TrEMBL | |
ENSSSCT00015021889.1 | UniProtKB/TrEMBL | |
ENSSSCT00025085738.1 | UniProtKB/TrEMBL | |
ENSSSCT00030058222.1 | UniProtKB/TrEMBL | |
ENSSSCT00040097745.1 | UniProtKB/TrEMBL | |
ENSSSCT00045019948.1 | UniProtKB/TrEMBL | |
ENSSSCT00065092437.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.25.40.20 | UniProtKB/TrEMBL |
InterPro | Ankyrin_rpt | UniProtKB/TrEMBL |
Ankyrin_rpt-contain_sf | UniProtKB/TrEMBL | |
Ion_trans_dom | UniProtKB/TrEMBL | |
TRPV | UniProtKB/TrEMBL | |
TRPV5 | UniProtKB/TrEMBL | |
TRPV5/TRPV6 | UniProtKB/TrEMBL | |
TRPV6_channel | UniProtKB/TrEMBL | |
NCBI Gene | TRPV5 | ENTREZGENE |
PANTHER | PTHR10582 | UniProtKB/TrEMBL |
TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL SUBFAMILY V MEMBER 5 | UniProtKB/TrEMBL | |
TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL SUBFAMILY V MEMBER 6 | UniProtKB/TrEMBL | |
Pfam | Ank_2 | UniProtKB/TrEMBL |
Ion_trans | UniProtKB/TrEMBL | |
PRINTS | ANKYRIN | UniProtKB/TrEMBL |
ECACCHANNEL | UniProtKB/TrEMBL | |
ECACCHANNEL1 | UniProtKB/TrEMBL | |
ECACCHANNEL2 | UniProtKB/TrEMBL | |
PROSITE | ANK_REP_REGION | UniProtKB/TrEMBL |
ANK_REPEAT | UniProtKB/TrEMBL | |
SMART | ANK | UniProtKB/TrEMBL |
Superfamily-SCOP | SSF48403 | UniProtKB/TrEMBL |
UniProt | A0A286ZUB6_PIG | UniProtKB/TrEMBL |
A0A480QGB9 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0MU24 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0SWK0 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1G440 | ENTREZGENE | |
F1SRU0_PIG | UniProtKB/TrEMBL | |
UniProt Secondary | A0A8D1G440 | UniProtKB/TrEMBL |
F1SRU1 | UniProtKB/TrEMBL | |
VGNC ID | VGNC:108162 | ENTREZGENE |