Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | FRS2 (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 | FRS2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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FRS2 (Canis lupus familiaris - dog) |
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FRS2 (Homo sapiens - human) |
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Frs2 (Mus musculus - house mouse) |
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Frs2 (Rattus norvegicus - Norway rat) |
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Frs2 (Chinchilla lanigera - long-tailed chinchilla) |
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FRS2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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Frs2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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FRS2 (Sus scrofa - pig) |
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FRS2 (Chlorocebus sabaeus - green monkey) |
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Frs2 (Heterocephalus glaber - naked mole-rat) |
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Variants in FRS2
630 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 | 11 | 2 | 9 | 9 | 3 | |||||||
Low | 5 | 5 | 11 | 6 | 6 | 6 | 4 | 6 | 3 | 8 | 1 | 3 |
Below cutoff |
RefSeq Transcripts | XM_005625610 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_005625611 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005625612 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005625613 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_022424197 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038488090 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038488091 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038488092 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038488093 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038488094 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038488095 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038488096 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038549981 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038549982 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038549983 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038549984 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038549985 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038549986 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038549987 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038613964 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038613965 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038613966 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038613967 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038613968 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038613969 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038613970 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038634539 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038634550 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038634556 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038679313 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038679314 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038679315 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038679316 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038679317 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038679318 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038679319 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_531674 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AAEX04000010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JAAHUQ010000097 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAQRD010000002 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAUVH010000358 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
REHQ01000010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSCAFT00000000681 ⟹ ENSCAFP00000000625 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845030983 ⟹ ENSCAFP00845024277 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_005625610 ⟹ XP_005625667 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005625612 ⟹ XP_005625669 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005625613 ⟹ XP_005625670 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_022424197 ⟹ XP_022279905 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_038488090 ⟹ XP_038344018 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038488091 ⟹ XP_038344019 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038488092 ⟹ XP_038344020 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038488093 ⟹ XP_038344021 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038488094 ⟹ XP_038344022 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038488095 ⟹ XP_038344023 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038488096 ⟹ XP_038344024 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038549981 ⟹ XP_038405909 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038549982 ⟹ XP_038405910 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038549983 ⟹ XP_038405911 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038549984 ⟹ XP_038405912 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038549985 ⟹ XP_038405913 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038549986 ⟹ XP_038405914 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038549987 ⟹ XP_038405915 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038613964 ⟹ XP_038469892 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038613965 ⟹ XP_038469893 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038613966 ⟹ XP_038469894 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038613967 ⟹ XP_038469895 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038613968 ⟹ XP_038469896 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038613969 ⟹ XP_038469897 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038613970 ⟹ XP_038469898 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038634539 ⟹ XP_038490467 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038634550 ⟹ XP_038490478 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038634556 ⟹ XP_038490484 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038679313 ⟹ XP_038535241 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038679314 ⟹ XP_038535242 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038679315 ⟹ XP_038535243 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038679316 ⟹ XP_038535244 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038679317 ⟹ XP_038535245 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038679318 ⟹ XP_038535246 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038679319 ⟹ XP_038535247 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | XP_005625667 | (Get FASTA) | NCBI Sequence Viewer |
XP_005625669 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005625670 | (Get FASTA) | NCBI Sequence Viewer | |
XP_022279905 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038344018 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038344019 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038344020 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038344021 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038344022 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038344023 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038344024 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038405909 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038405910 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038405911 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038405912 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038405913 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038405914 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038405915 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038469892 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038469893 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038469894 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038469895 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038469896 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038469897 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038469898 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038490467 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038490478 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038490484 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038535241 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038535242 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038535243 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038535244 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038535245 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038535246 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038535247 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSCAFP00000000625.3 | ||
ENSCAFP00030011693.1 | |||
ENSCAFP00040012146.1 | |||
ENSCAFP00845024277 | |||
ENSCAFP00845024277.1 |
RefSeq Acc Id: | XP_005625669 ⟸ XM_005625612 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0MMQ3 (UniProtKB/TrEMBL), A0A8C0R2R6 (UniProtKB/TrEMBL), A0A8I3P4L9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005625667 ⟸ XM_005625610 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0MMQ3 (UniProtKB/TrEMBL), A0A8C0R2R6 (UniProtKB/TrEMBL), A0A8I3P4L9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005625670 ⟸ XM_005625613 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0MMQ3 (UniProtKB/TrEMBL), A0A8C0R2R6 (UniProtKB/TrEMBL), A0A8I3P4L9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_022279905 ⟸ XM_022424197 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0MMQ3 (UniProtKB/TrEMBL), A0A8C0R2R6 (UniProtKB/TrEMBL), A0A8I3P4L9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSCAFP00000000625 ⟸ ENSCAFT00000000681 |
RefSeq Acc Id: | XP_038344019 ⟸ XM_038488091 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038344021 ⟸ XM_038488093 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038344022 ⟸ XM_038488094 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038344018 ⟸ XM_038488090 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038344023 ⟸ XM_038488095 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038344020 ⟸ XM_038488092 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038344024 ⟸ XM_038488096 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038469893 ⟸ XM_038613965 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038469895 ⟸ XM_038613967 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038469896 ⟸ XM_038613968 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038469892 ⟸ XM_038613964 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038469897 ⟸ XM_038613969 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038469894 ⟸ XM_038613966 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038469898 ⟸ XM_038613970 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038535242 ⟸ XM_038679314 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0MMQ3 (UniProtKB/TrEMBL), A0A8C0R2R6 (UniProtKB/TrEMBL), A0A8I3P4L9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038535244 ⟸ XM_038679316 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0MMQ3 (UniProtKB/TrEMBL), A0A8C0R2R6 (UniProtKB/TrEMBL), A0A8I3P4L9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038535245 ⟸ XM_038679317 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038535241 ⟸ XM_038679313 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0MMQ3 (UniProtKB/TrEMBL), A0A8C0R2R6 (UniProtKB/TrEMBL), A0A8I3P4L9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038535246 ⟸ XM_038679318 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038535243 ⟸ XM_038679315 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0MMQ3 (UniProtKB/TrEMBL), A0A8C0R2R6 (UniProtKB/TrEMBL), A0A8I3P4L9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038535247 ⟸ XM_038679319 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038490467 ⟸ XM_038634539 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038490478 ⟸ XM_038634550 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038490484 ⟸ XM_038634556 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038405910 ⟸ XM_038549982 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0MMQ3 (UniProtKB/TrEMBL), A0A8C0R2R6 (UniProtKB/TrEMBL), A0A8I3P4L9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038405912 ⟸ XM_038549984 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0MMQ3 (UniProtKB/TrEMBL), A0A8C0R2R6 (UniProtKB/TrEMBL), A0A8I3P4L9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038405913 ⟸ XM_038549985 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038405909 ⟸ XM_038549981 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0MMQ3 (UniProtKB/TrEMBL), A0A8C0R2R6 (UniProtKB/TrEMBL), A0A8I3P4L9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038405914 ⟸ XM_038549986 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038405911 ⟸ XM_038549983 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0MMQ3 (UniProtKB/TrEMBL), A0A8C0R2R6 (UniProtKB/TrEMBL), A0A8I3P4L9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038405915 ⟸ XM_038549987 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | ENSCAFP00845024277 ⟸ ENSCAFT00845030983 |
Database | Acc Id | Source(s) |
Ensembl Genes | ENSCAFG00000000431 | Ensembl, UniProtKB/TrEMBL |
ENSCAFG00030007303 | UniProtKB/TrEMBL | |
ENSCAFG00040007540 | UniProtKB/TrEMBL | |
ENSCAFG00845017484 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL | |
Ensembl Transcript | ENSCAFT00000000681.5 | UniProtKB/TrEMBL |
ENSCAFT00030013391.1 | UniProtKB/TrEMBL | |
ENSCAFT00040014034.1 | UniProtKB/TrEMBL | |
ENSCAFT00845030983 | ENTREZGENE | |
ENSCAFT00845030983.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.30.29.30 | UniProtKB/TrEMBL |
InterPro | FRS2_PTB | UniProtKB/TrEMBL |
IRS_PTB | UniProtKB/TrEMBL | |
PH-like_dom_sf | UniProtKB/TrEMBL | |
KEGG Report | cfa:474444 | UniProtKB/TrEMBL |
NCBI Gene | FRS2 | ENTREZGENE |
PANTHER | DOCKING PROTEIN RELATED | UniProtKB/TrEMBL |
FIBROBLAST GROWTH FACTOR RECEPTOR SUBSTRATE 2 | UniProtKB/TrEMBL | |
Pfam | IRS | UniProtKB/TrEMBL |
PROSITE | IRS_PTB | UniProtKB/TrEMBL |
SMART | IRS | UniProtKB/TrEMBL |
PTBI | UniProtKB/TrEMBL | |
Superfamily-SCOP | PH domain-like | UniProtKB/TrEMBL |
UniProt | A0A8C0MMQ3 | ENTREZGENE, UniProtKB/TrEMBL |
A0A8C0R2R6 | ENTREZGENE | |
A0A8I3P4L9 | ENTREZGENE, UniProtKB/TrEMBL | |
VGNC ID | VGNC:40986 | ENTREZGENE |