Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | RPH3A (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 | RPH3A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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RPH3A (Canis lupus familiaris - dog) |
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RPH3A (Homo sapiens - human) |
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Rph3a (Mus musculus - house mouse) |
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Rph3a (Rattus norvegicus - Norway rat) |
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Rph3a (Chinchilla lanigera - long-tailed chinchilla) |
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RPH3A (Pan paniscus - bonobo/pygmy chimpanzee) |
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Rph3a (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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RPH3A (Sus scrofa - pig) |
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RPH3A (Chlorocebus sabaeus - green monkey) |
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Rph3a (Heterocephalus glaber - naked mole-rat) |
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Variants in RPH3A
2656 total Variants |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | reproductive system | respiratory system | adipose tissue | |
High | ||||||||||||
Medium | 6 | |||||||||||
Low | 4 | 1 | 1 | 1 | 5 | |||||||
Below cutoff | 1 | 5 | 17 | 2 | 6 | 2 | 6 | 3 | 5 | 7 | 5 | 4 |
RefSeq Transcripts | XM_005636252 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_014107989 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_014107990 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_014107991 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_022410375 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_022410376 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_022410377 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_022410378 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038436742 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038436744 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038436745 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038436746 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038436747 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038459318 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038459319 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038511656 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038511657 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038511658 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038511659 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038511660 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038511661 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038575150 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038575151 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038575152 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038575153 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038575154 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038575155 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038639334 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038639335 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038639336 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038639337 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038639338 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AAEX04000026 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JAAHUQ010000279 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAQRD010000065 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAUVH010000375 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
REHQ01000026 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSCAFT00000014160 ⟹ ENSCAFP00000013100 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000049747 ⟹ ENSCAFP00000041873 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000074871 ⟹ ENSCAFP00000058503 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845038280 ⟹ ENSCAFP00845029982 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845038414 ⟹ ENSCAFP00845030076 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845038543 ⟹ ENSCAFP00845030177 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_005636252 ⟹ XP_005636309 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_014107989 ⟹ XP_013963464 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_014107991 ⟹ XP_013963466 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_022410375 ⟹ XP_022266083 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_038436742 ⟹ XP_038292670 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038436744 ⟹ XP_038292672 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038436745 ⟹ XP_038292673 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038436746 ⟹ XP_038292674 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038436747 ⟹ XP_038292675 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038459318 ⟹ XP_038315246 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038459319 ⟹ XP_038315247 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038511656 ⟹ XP_038367584 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038511657 ⟹ XP_038367585 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038511658 ⟹ XP_038367586 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038511659 ⟹ XP_038367587 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038511660 ⟹ XP_038367588 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038511661 ⟹ XP_038367589 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038575150 ⟹ XP_038431078 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038575151 ⟹ XP_038431079 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038575152 ⟹ XP_038431080 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038575153 ⟹ XP_038431081 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038575154 ⟹ XP_038431082 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038575155 ⟹ XP_038431083 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038639334 ⟹ XP_038495262 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038639335 ⟹ XP_038495263 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038639336 ⟹ XP_038495264 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038639337 ⟹ XP_038495265 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038639338 ⟹ XP_038495266 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | XP_005636309 | (Get FASTA) | NCBI Sequence Viewer |
XP_013963464 | (Get FASTA) | NCBI Sequence Viewer | |
XP_013963466 | (Get FASTA) | NCBI Sequence Viewer | |
XP_022266083 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038292670 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038292672 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038292673 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038292674 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038292675 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038315246 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038315247 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038367584 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038367585 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038367586 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038367587 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038367588 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038367589 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038431078 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038431079 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038431080 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038431081 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038431082 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038431083 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038495262 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038495263 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038495264 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038495265 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038495266 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSCAFP00000013100.5 | ||
ENSCAFP00000041873.3 | |||
ENSCAFP00000058503.2 | |||
ENSCAFP00845029982 | |||
ENSCAFP00845029982.1 | |||
ENSCAFP00845030076 | |||
ENSCAFP00845030076.1 | |||
ENSCAFP00845030177 | |||
ENSCAFP00845030177.1 |
RefSeq Acc Id: | XP_013963464 ⟸ XM_014107989 |
- UniProtKB: | A0A8P0TAF2 (UniProtKB/TrEMBL), A0A8P0NB03 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005636309 ⟸ XM_005636252 |
- UniProtKB: | A0A8P0TAF2 (UniProtKB/TrEMBL), A0A8P0NB03 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_013963466 ⟸ XM_014107991 |
- UniProtKB: | A0A8P0TAF2 (UniProtKB/TrEMBL), A0A8P0NB03 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_022266083 ⟸ XM_022410375 |
- UniProtKB: | A0A8P0TAF2 (UniProtKB/TrEMBL), A0A8P0NB03 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSCAFP00000058503 ⟸ ENSCAFT00000074871 |
RefSeq Acc Id: | ENSCAFP00000041873 ⟸ ENSCAFT00000049747 |
RefSeq Acc Id: | ENSCAFP00000013100 ⟸ ENSCAFT00000014160 |
RefSeq Acc Id: | XP_038367587 ⟸ XM_038511659 |
RefSeq Acc Id: | XP_038367586 ⟸ XM_038511658 |
RefSeq Acc Id: | XP_038367585 ⟸ XM_038511657 |
RefSeq Acc Id: | XP_038367584 ⟸ XM_038511656 |
RefSeq Acc Id: | XP_038367588 ⟸ XM_038511660 |
RefSeq Acc Id: | XP_038367589 ⟸ XM_038511661 |
RefSeq Acc Id: | XP_038495264 ⟸ XM_038639336 |
RefSeq Acc Id: | XP_038495263 ⟸ XM_038639335 |
RefSeq Acc Id: | XP_038495262 ⟸ XM_038639334 |
RefSeq Acc Id: | XP_038495265 ⟸ XM_038639337 |
RefSeq Acc Id: | XP_038495266 ⟸ XM_038639338 |
RefSeq Acc Id: | XP_038292673 ⟸ XM_038436745 |
- UniProtKB: | A0A8I3PCL2 (UniProtKB/TrEMBL), A0A8I3PM11 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038292672 ⟸ XM_038436744 |
- UniProtKB: | A0A8I3PCL2 (UniProtKB/TrEMBL), A0A8I3PM11 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038292670 ⟸ XM_038436742 |
- UniProtKB: | A0A8I3PCL2 (UniProtKB/TrEMBL), A0A8I3PM11 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038292674 ⟸ XM_038436746 |
- UniProtKB: | A0A8I3PCL2 (UniProtKB/TrEMBL), A0A8I3PM11 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038292675 ⟸ XM_038436747 |
- UniProtKB: | A0A8I3PCL2 (UniProtKB/TrEMBL), A0A8I3PM11 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038315246 ⟸ XM_038459318 |
- UniProtKB: | A0A8P0TAF2 (UniProtKB/TrEMBL), A0A8P0NB03 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038315247 ⟸ XM_038459319 |
- UniProtKB: | A0A8P0TAF2 (UniProtKB/TrEMBL), A0A8P0NB03 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038431081 ⟸ XM_038575153 |
- UniProtKB: | A0A8P0NB03 (UniProtKB/TrEMBL), A0A8P0TAF2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038431080 ⟸ XM_038575152 |
- UniProtKB: | A0A8P0NB03 (UniProtKB/TrEMBL), A0A8P0TAF2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038431079 ⟸ XM_038575151 |
- UniProtKB: | A0A8P0NB03 (UniProtKB/TrEMBL), A0A8P0TAF2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038431078 ⟸ XM_038575150 |
- UniProtKB: | A0A8P0NB03 (UniProtKB/TrEMBL), A0A8P0TAF2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038431082 ⟸ XM_038575154 |
- UniProtKB: | A0A8P0NB03 (UniProtKB/TrEMBL), A0A8P0TAF2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038431083 ⟸ XM_038575155 |
- UniProtKB: | A0A8P0NB03 (UniProtKB/TrEMBL), A0A8P0TAF2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSCAFP00845030177 ⟸ ENSCAFT00845038543 |
RefSeq Acc Id: | ENSCAFP00845029982 ⟸ ENSCAFT00845038280 |
RefSeq Acc Id: | ENSCAFP00845030076 ⟸ ENSCAFT00845038414 |
Database | Acc Id | Source(s) |
Ensembl Genes | ENSCAFG00000008916 | Ensembl, UniProtKB/TrEMBL |
ENSCAFG00845021672 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL | |
Ensembl Transcript | ENSCAFT00000014160.5 | UniProtKB/TrEMBL |
ENSCAFT00000049747.4 | UniProtKB/TrEMBL | |
ENSCAFT00000074871.2 | UniProtKB/TrEMBL | |
ENSCAFT00845038280 | ENTREZGENE | |
ENSCAFT00845038280.1 | UniProtKB/TrEMBL | |
ENSCAFT00845038414 | ENTREZGENE | |
ENSCAFT00845038414.1 | UniProtKB/TrEMBL | |
ENSCAFT00845038543 | ENTREZGENE | |
ENSCAFT00845038543.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.60.40.150 | UniProtKB/TrEMBL |
3.30.40.10 | UniProtKB/TrEMBL | |
InterPro | C2_dom | UniProtKB/TrEMBL |
C2_domain_sf | UniProtKB/TrEMBL | |
FYVE_2 | UniProtKB/TrEMBL | |
Rab_BD | UniProtKB/TrEMBL | |
Rabphilin/DOC2/Noc2 | UniProtKB/TrEMBL | |
Rabphilin_Doc2_C2A | UniProtKB/TrEMBL | |
RPH3A | UniProtKB/TrEMBL | |
Synaptotagmin | UniProtKB/TrEMBL | |
Znf_FYVE-rel | UniProtKB/TrEMBL | |
Znf_FYVE_PHD | UniProtKB/TrEMBL | |
Znf_RING/FYVE/PHD | UniProtKB/TrEMBL | |
KEGG Report | cfa:611038 | UniProtKB/TrEMBL |
NCBI Gene | RPH3A | ENTREZGENE |
PANTHER | PTHR45729 | UniProtKB/TrEMBL |
PTHR45729:SF3 | UniProtKB/TrEMBL | |
Pfam | FYVE_2 | UniProtKB/TrEMBL |
PF00168 | UniProtKB/TrEMBL | |
PRINTS | C2DOMAIN | UniProtKB/TrEMBL |
SYNAPTOTAGMN | UniProtKB/TrEMBL | |
PROSITE | PS50004 | UniProtKB/TrEMBL |
RABBD | UniProtKB/TrEMBL | |
ZF_FYVE | UniProtKB/TrEMBL | |
SMART | SM00239 | UniProtKB/TrEMBL |
Superfamily-SCOP | SSF49562 | UniProtKB/TrEMBL |
SSF57903 | UniProtKB/TrEMBL | |
UniProt | A0A8I3PCL2 | ENTREZGENE, UniProtKB/TrEMBL |
A0A8I3PHM5_CANLF | UniProtKB/TrEMBL | |
A0A8I3PM11 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8P0NB03 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8P0NSL7_CANLF | UniProtKB/TrEMBL | |
A0A8P0TAF2 | ENTREZGENE, UniProtKB/TrEMBL | |
VGNC ID | VGNC:45713 | ENTREZGENE |