Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Bloom syndrome | | ISO | BLM (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Bloom syndrome | | ISO | BLM (Homo sapiens) | 7240710 | | OMIM | | |
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BLM (Canis lupus familiaris - dog) |
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BLM (Homo sapiens - human) |
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Blm (Mus musculus - house mouse) |
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Blm (Rattus norvegicus - Norway rat) |
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Blm (Chinchilla lanigera - long-tailed chinchilla) |
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BLM (Pan paniscus - bonobo/pygmy chimpanzee) |
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Blm (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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BLM (Sus scrofa - pig) |
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BLM (Chlorocebus sabaeus - green monkey) |
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Blm (Heterocephalus glaber - naked mole-rat) |
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Variants in BLM
749 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 | ||||||||||||
Low | 5 | 5 | 16 | 6 | 6 | 12 | 8 | 10 | 5 | |||
Below cutoff | 6 | 6 | 6 | 6 | 1 |
RefSeq Transcripts | XM_003434379 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_014112442 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_022416949 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_022416951 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_022416952 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038471951 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038471952 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038471953 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038471954 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038471955 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038475672 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038532885 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038532886 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038532887 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038532888 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038532889 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038597210 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038597211 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038597212 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038597213 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038597214 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038661391 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038661392 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038661393 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038661394 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038661396 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AAEX04000003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JAAHUQ010000045 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAQRD010000074 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAUVH010000011 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
REHQ01000003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSCAFT00000019677 ⟹ ENSCAFP00000018251 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000042800 ⟹ ENSCAFP00000043065 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000072655 ⟹ ENSCAFP00000048409 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845004298 ⟹ ENSCAFP00845003429 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845004310 ⟹ ENSCAFP00845003440 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845004360 ⟹ ENSCAFP00845003482 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_003434379 ⟹ XP_003434427 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_014112442 ⟹ XP_013967917 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_022416949 ⟹ XP_022272657 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_022416951 ⟹ XP_022272659 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_038471951 ⟹ XP_038327879 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038471952 ⟹ XP_038327880 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038471953 ⟹ XP_038327881 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038471954 ⟹ XP_038327882 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038471955 ⟹ XP_038327883 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038475672 ⟹ XP_038331600 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038532885 ⟹ XP_038388813 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038532886 ⟹ XP_038388814 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038532887 ⟹ XP_038388815 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038532888 ⟹ XP_038388816 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038532889 ⟹ XP_038388817 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038597210 ⟹ XP_038453138 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038597211 ⟹ XP_038453139 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038597212 ⟹ XP_038453140 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038597213 ⟹ XP_038453141 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038597214 ⟹ XP_038453142 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038661391 ⟹ XP_038517319 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038661392 ⟹ XP_038517320 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038661393 ⟹ XP_038517321 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038661394 ⟹ XP_038517322 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038661396 ⟹ XP_038517324 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | XP_003434427 | (Get FASTA) | NCBI Sequence Viewer |
XP_013967917 | (Get FASTA) | NCBI Sequence Viewer | |
XP_022272657 | (Get FASTA) | NCBI Sequence Viewer | |
XP_022272659 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038327879 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038327880 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038327881 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038327882 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038327883 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038331600 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038388813 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038388814 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038388815 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038388816 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038388817 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038453138 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038453139 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038453140 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038453141 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038453142 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038517319 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038517320 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038517321 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038517322 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038517324 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSCAFP00000018251.4 | ||
ENSCAFP00000043065.2 | |||
ENSCAFP00000048409.1 | |||
ENSCAFP00030002717.1 | |||
ENSCAFP00040004735.1 | |||
ENSCAFP00040004760.1 | |||
ENSCAFP00040004796.1 | |||
ENSCAFP00845003429 | |||
ENSCAFP00845003429.1 | |||
ENSCAFP00845003440 | |||
ENSCAFP00845003440.1 | |||
ENSCAFP00845003482.1 |
RefSeq Acc Id: | XP_003434427 ⟸ XM_003434379 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0RAG2 (UniProtKB/TrEMBL), A0A8I3MFB9 (UniProtKB/TrEMBL), A0A8C0KUW7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_013967917 ⟸ XM_014112442 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | XP_022272659 ⟸ XM_022416951 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8I3MT50 (UniProtKB/TrEMBL), A0A8P0SWG9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_022272657 ⟸ XM_022416949 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0KUW7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSCAFP00000018251 ⟸ ENSCAFT00000019677 |
RefSeq Acc Id: | ENSCAFP00000043065 ⟸ ENSCAFT00000042800 |
RefSeq Acc Id: | ENSCAFP00000048409 ⟸ ENSCAFT00000072655 |
RefSeq Acc Id: | XP_038327880 ⟸ XM_038471952 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038327881 ⟸ XM_038471953 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038327879 ⟸ XM_038471951 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038327882 ⟸ XM_038471954 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038327883 ⟸ XM_038471955 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038453139 ⟸ XM_038597211 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038453140 ⟸ XM_038597212 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038453138 ⟸ XM_038597210 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038453141 ⟸ XM_038597213 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038453142 ⟸ XM_038597214 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038517320 ⟸ XM_038661392 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0RAG2 (UniProtKB/TrEMBL), A0A8I3MFB9 (UniProtKB/TrEMBL), A0A8C0KUW7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038517321 ⟸ XM_038661393 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8I3MT50 (UniProtKB/TrEMBL), A0A8P0SWG9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038517319 ⟸ XM_038661391 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0KUW7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038517322 ⟸ XM_038661394 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038517324 ⟸ XM_038661396 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038331600 ⟸ XM_038475672 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038388814 ⟸ XM_038532886 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0KUW7 (UniProtKB/TrEMBL), A0A8C0RAG2 (UniProtKB/TrEMBL), A0A8I3MFB9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038388815 ⟸ XM_038532887 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8I3MT50 (UniProtKB/TrEMBL), A0A8P0SWG9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038388813 ⟸ XM_038532885 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0KUW7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038388816 ⟸ XM_038532888 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038388817 ⟸ XM_038532889 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | ENSCAFP00845003440 ⟸ ENSCAFT00845004310 |
RefSeq Acc Id: | ENSCAFP00845003429 ⟸ ENSCAFT00845004298 |
RefSeq Acc Id: | ENSCAFP00845003482 ⟸ ENSCAFT00845004360 |
Database | Acc Id | Source(s) |
Ensembl Genes | ENSCAFG00000012385 | Ensembl, UniProtKB/TrEMBL |
ENSCAFG00030001711 | UniProtKB/TrEMBL | |
ENSCAFG00040002898 | UniProtKB/TrEMBL | |
ENSCAFG00845002429 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL | |
Ensembl Transcript | ENSCAFT00000019677.5 | UniProtKB/TrEMBL |
ENSCAFT00000042800.4 | UniProtKB/TrEMBL | |
ENSCAFT00000072655.2 | UniProtKB/TrEMBL | |
ENSCAFT00030003064.1 | UniProtKB/TrEMBL | |
ENSCAFT00040005510.1 | UniProtKB/TrEMBL | |
ENSCAFT00040005536.1 | UniProtKB/TrEMBL | |
ENSCAFT00040005572.1 | UniProtKB/TrEMBL | |
ENSCAFT00845004298 | ENTREZGENE | |
ENSCAFT00845004298.1 | UniProtKB/TrEMBL | |
ENSCAFT00845004310 | ENTREZGENE | |
ENSCAFT00845004310.1 | UniProtKB/TrEMBL | |
ENSCAFT00845004360.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.10.10 | UniProtKB/TrEMBL |
1.10.150.80 | UniProtKB/TrEMBL | |
3.40.50.300 | UniProtKB/TrEMBL | |
InterPro | BDHCT | UniProtKB/TrEMBL |
BDHCT_assoc | UniProtKB/TrEMBL | |
BLM_N | UniProtKB/TrEMBL | |
DEAD/DEAH_box_helicase_dom | UniProtKB/TrEMBL | |
DNA/RNA_helicase_DEAH_CS | UniProtKB/TrEMBL | |
DNA_helicase_ATP-dep_RecQ | UniProtKB/TrEMBL | |
Helicase_ATP-bd | UniProtKB/TrEMBL | |
Helicase_C | UniProtKB/TrEMBL | |
HRDC-like_sf | UniProtKB/TrEMBL | |
HRDC_dom | UniProtKB/TrEMBL | |
HRDC_dom_sf | UniProtKB/TrEMBL | |
P-loop_NTPase | UniProtKB/TrEMBL | |
RecQ_Zn-bd | UniProtKB/TrEMBL | |
RQC_domain | UniProtKB/TrEMBL | |
WH-like_DNA-bd_sf | UniProtKB/TrEMBL | |
WH_DNA-bd_sf | UniProtKB/TrEMBL | |
KEGG Report | cfa:100685609 | UniProtKB/TrEMBL |
NCBI Gene | BLM | ENTREZGENE |
PANTHER | BLOOM SYNDROME PROTEIN | UniProtKB/TrEMBL |
DNA HELICASE RECQ FAMILY MEMBER | UniProtKB/TrEMBL | |
Pfam | BDHCT | UniProtKB/TrEMBL |
BDHCT_assoc | UniProtKB/TrEMBL | |
BLM_N | UniProtKB/TrEMBL | |
DEAD | UniProtKB/TrEMBL | |
Helicase_C | UniProtKB/TrEMBL | |
HRDC | UniProtKB/TrEMBL | |
RecQ_Zn_bind | UniProtKB/TrEMBL | |
RQC | UniProtKB/TrEMBL | |
PROSITE | DEAH_ATP_HELICASE | UniProtKB/TrEMBL |
HELICASE_ATP_BIND_1 | UniProtKB/TrEMBL | |
HELICASE_CTER | UniProtKB/TrEMBL | |
HRDC | UniProtKB/TrEMBL | |
SMART | DEXDc | UniProtKB/TrEMBL |
HELICc | UniProtKB/TrEMBL | |
HRDC | UniProtKB/TrEMBL | |
RQC | UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF46785 | UniProtKB/TrEMBL |
SSF47819 | UniProtKB/TrEMBL | |
SSF52540 | UniProtKB/TrEMBL | |
UniProt | A0A8C0KUW7 | ENTREZGENE |
A0A8C0Q0C7_CANLF | UniProtKB/TrEMBL | |
A0A8C0Q0H9_CANLF | UniProtKB/TrEMBL | |
A0A8C0Q434_CANLF | UniProtKB/TrEMBL | |
A0A8C0RAG2 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3MFB9 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3MG60_CANLF | UniProtKB/TrEMBL | |
A0A8I3MT50 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8P0SWG9 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8P0T1B3_CANLF | UniProtKB/TrEMBL | |
VGNC ID | VGNC:57173 | ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2018-08-14 | BLM | BLM RecQ like helicase | Bloom syndrome RecQ like helicase | Symbol and/or name change | 5135510 | APPROVED |