Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | psoriasis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:23143594 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | psoriasis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:23143594 | |
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# | Reference Title | Reference Citation |
1. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:11214970 | PMID:14702039 | PMID:17114934 | PMID:17903301 | PMID:18178554 | PMID:20379614 | PMID:21873635 | PMID:21903422 | PMID:23360436 | PMID:25391383 | PMID:26673895 | PMID:29507755 |
PMID:32296183 | PMID:33277362 | PMID:33961781 | PMID:34215755 |
ZC3H12C (Homo sapiens - human) |
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Zc3h12c (Mus musculus - house mouse) |
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Zc3h12c (Rattus norvegicus - Norway rat) |
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Zc3h12c (Chinchilla lanigera - long-tailed chinchilla) |
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ZC3H12C (Pan paniscus - bonobo/pygmy chimpanzee) |
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ZC3H12C (Canis lupus familiaris - dog) |
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Zc3h12c (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ZC3H12C (Sus scrofa - pig) |
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ZC3H12C (Chlorocebus sabaeus - green monkey) |
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Zc3h12c (Heterocephalus glaber - naked mole-rat) |
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Variants in ZC3H12C
32 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 | copy number gain | See cases [RCV000053638] | Chr11:100348599..135040246 [GRCh38] Chr11:100219331..134910140 [GRCh37] Chr11:99724541..134415350 [NCBI36] Chr11:11q22.1-25 |
pathogenic |
NM_033390.1(ZC3H12C):c.442A>G (p.Thr148Ala) | single nucleotide variant | Malignant melanoma [RCV000069155] | Chr11:110137083 [GRCh38] Chr11:110007808 [GRCh37] Chr11:109513018 [NCBI36] Chr11:11q22.3 |
not provided |
Single allele | deletion | Intellectual disability [RCV001293382] | Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) | copy number gain | See cases [RCV000511729] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11q22.3(chr11:109558847-110079020)x3 | copy number gain | See cases [RCV000511370] | Chr11:109558847..110079020 [GRCh37] Chr11:11q22.3 |
uncertain significance |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 | copy number gain | See cases [RCV000510881] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_033390.2(ZC3H12C):c.527A>G (p.Glu176Gly) | single nucleotide variant | Inborn genetic diseases [RCV003267526] | Chr11:110137168 [GRCh38] Chr11:110007893 [GRCh37] Chr11:11q22.3 |
uncertain significance |
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 | copy number gain | not provided [RCV000683374] | Chr11:71588805..116680918 [GRCh37] Chr11:11q13.4-23.3 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 | copy number gain | not provided [RCV000737348] | Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 | copy number loss | not provided [RCV000737595] | Chr11:80053454..113316236 [GRCh37] Chr11:11q14.1-23.2 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 | copy number gain | not provided [RCV000749874] | Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1 | copy number loss | not provided [RCV000848741] | Chr11:104101411..116680918 [GRCh37] Chr11:11q22.3-23.3 |
pathogenic |
GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1 | copy number loss | not provided [RCV001006439] | Chr11:103320065..114349787 [GRCh37] Chr11:11q22.3-23.2 |
pathogenic |
GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1 | copy number loss | not provided [RCV001006445] | Chr11:105699599..114524876 [GRCh37] Chr11:11q22.3-23.3 |
pathogenic |
NM_033390.2(ZC3H12C):c.355C>G (p.Gln119Glu) | single nucleotide variant | X-linked Alport syndrome [RCV001563714] | Chr11:110136996 [GRCh38] Chr11:110007721 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NC_000011.9:g.(?_94153285)_(111965700_?)del | deletion | Ataxia-telangiectasia syndrome [RCV001389105] | Chr11:94153285..111965700 [GRCh37] Chr11:11q21-23.1 |
pathogenic |
NC_000011.9:g.104288964_134937416dup | duplication | Distal trisomy 11q [RCV001250234] | Chr11:104288964..134937416 [GRCh37] Chr11:11q22.3-25 |
pathogenic |
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 | copy number loss | not provided [RCV001832892] | Chr11:85422071..118022671 [GRCh37] Chr11:11q14.1-23.3 |
uncertain significance |
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 | copy number gain | MISSED ABORTION [RCV002282973] | Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25 |
pathogenic |
NM_033390.2(ZC3H12C):c.398G>T (p.Arg133Leu) | single nucleotide variant | Inborn genetic diseases [RCV003262774] | Chr11:110137039 [GRCh38] Chr11:110007764 [GRCh37] Chr11:11q22.3 |
uncertain significance |
GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1 | copy number loss | not provided [RCV002474547] | Chr11:109328787..116414966 [GRCh37] Chr11:11q22.3-23.3 |
pathogenic |
NM_033390.2(ZC3H12C):c.380A>T (p.Glu127Val) | single nucleotide variant | Inborn genetic diseases [RCV002773383] | Chr11:110137021 [GRCh38] Chr11:110007746 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_033390.2(ZC3H12C):c.712G>T (p.Val238Leu) | single nucleotide variant | Inborn genetic diseases [RCV002689739] | Chr11:110137353 [GRCh38] Chr11:110008078 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_033390.2(ZC3H12C):c.469G>A (p.Asp157Asn) | single nucleotide variant | Inborn genetic diseases [RCV002684185] | Chr11:110137110 [GRCh38] Chr11:110007835 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_033390.2(ZC3H12C):c.1146C>G (p.Asp382Glu) | single nucleotide variant | Inborn genetic diseases [RCV002773930] | Chr11:110159488 [GRCh38] Chr11:110030213 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_033390.2(ZC3H12C):c.769A>G (p.Met257Val) | single nucleotide variant | Inborn genetic diseases [RCV002684363] | Chr11:110137410 [GRCh38] Chr11:110008135 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_033390.2(ZC3H12C):c.2197C>T (p.His733Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002946323] | Chr11:110165282 [GRCh38] Chr11:110036007 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_033390.2(ZC3H12C):c.2590A>G (p.Met864Val) | single nucleotide variant | Inborn genetic diseases [RCV002734109] | Chr11:110165675 [GRCh38] Chr11:110036400 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_033390.2(ZC3H12C):c.1417A>G (p.Ser473Gly) | single nucleotide variant | Inborn genetic diseases [RCV002849264] | Chr11:110164502 [GRCh38] Chr11:110035227 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_033390.2(ZC3H12C):c.245A>G (p.Glu82Gly) | single nucleotide variant | Inborn genetic diseases [RCV002884655] | Chr11:110136886 [GRCh38] Chr11:110007611 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_033390.2(ZC3H12C):c.1564G>A (p.Val522Ile) | single nucleotide variant | Inborn genetic diseases [RCV002872844] | Chr11:110164649 [GRCh38] Chr11:110035374 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_033390.2(ZC3H12C):c.1756G>A (p.Asp586Asn) | single nucleotide variant | Inborn genetic diseases [RCV002916726] | Chr11:110164841 [GRCh38] Chr11:110035566 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_033390.2(ZC3H12C):c.1937G>A (p.Arg646Gln) | single nucleotide variant | Inborn genetic diseases [RCV002892602] | Chr11:110165022 [GRCh38] Chr11:110035747 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_033390.2(ZC3H12C):c.788A>C (p.Glu263Ala) | single nucleotide variant | Inborn genetic diseases [RCV002893574] | Chr11:110152933 [GRCh38] Chr11:110023658 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_033390.2(ZC3H12C):c.1006G>A (p.Asp336Asn) | single nucleotide variant | Inborn genetic diseases [RCV002893606] | Chr11:110159348 [GRCh38] Chr11:110030073 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_033390.2(ZC3H12C):c.445T>A (p.Ser149Thr) | single nucleotide variant | Inborn genetic diseases [RCV002699425] | Chr11:110137086 [GRCh38] Chr11:110007811 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_033390.2(ZC3H12C):c.13G>C (p.Gly5Arg) | single nucleotide variant | Inborn genetic diseases [RCV002956825] | Chr11:110093424 [GRCh38] Chr11:109964150 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_033390.2(ZC3H12C):c.479G>A (p.Arg160Gln) | single nucleotide variant | Inborn genetic diseases [RCV002763794] | Chr11:110137120 [GRCh38] Chr11:110007845 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_033390.2(ZC3H12C):c.83G>A (p.Arg28His) | single nucleotide variant | Inborn genetic diseases [RCV002648373] | Chr11:110136724 [GRCh38] Chr11:110007449 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_033390.2(ZC3H12C):c.1622G>A (p.Gly541Asp) | single nucleotide variant | Inborn genetic diseases [RCV002896263] | Chr11:110164707 [GRCh38] Chr11:110035432 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_033390.2(ZC3H12C):c.82C>T (p.Arg28Cys) | single nucleotide variant | Inborn genetic diseases [RCV002657621] | Chr11:110136723 [GRCh38] Chr11:110007448 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_033390.2(ZC3H12C):c.274G>A (p.Glu92Lys) | single nucleotide variant | Inborn genetic diseases [RCV003282070] | Chr11:110136915 [GRCh38] Chr11:110007640 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_033390.2(ZC3H12C):c.382C>T (p.Pro128Ser) | single nucleotide variant | Inborn genetic diseases [RCV003343216] | Chr11:110137023 [GRCh38] Chr11:110007748 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_033390.2(ZC3H12C):c.1766A>G (p.Tyr589Cys) | single nucleotide variant | Inborn genetic diseases [RCV003364123] | Chr11:110164851 [GRCh38] Chr11:110035576 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_033390.2(ZC3H12C):c.387C>G (p.His129Gln) | single nucleotide variant | Inborn genetic diseases [RCV003369428] | Chr11:110137028 [GRCh38] Chr11:110007753 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_033390.2(ZC3H12C):c.119A>G (p.His40Arg) | single nucleotide variant | Inborn genetic diseases [RCV003378289] | Chr11:110136760 [GRCh38] Chr11:110007485 [GRCh37] Chr11:11q22.3 |
uncertain significance |
Single allele | duplication | not provided [RCV003448710] | Chr11:102134973..134945611 [GRCh37] Chr11:11q22.2-25 |
pathogenic |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
SHGC-34524 |
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STS-D59827 |
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D11S1865 |
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D11S3389 |
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SHGC-146834 |
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D11S4676 |
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D11S4469 |
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RH66754 |
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RH47345 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | |
High | |||||||||||||||||
Medium | 96 | 17 | 129 | 7 | 411 | 12 | 858 | 252 | 626 | 43 | 108 | 282 | 3 | 17 | 748 | ||
Low | 2306 | 2202 | 1590 | 609 | 637 | 446 | 3497 | 1919 | 3086 | 372 | 1329 | 1325 | 168 | 1187 | 2040 | 4 | |
Below cutoff | 20 | 752 | 7 | 6 | 796 | 6 | 24 | 14 | 4 | 16 | 2 | 2 | 1 |
RefSeq Transcripts | NM_001411037 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_033390 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB051513 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AB096241 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK095101 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK295437 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK299100 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL832893 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AP000901 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AP001889 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068267 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF511113 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000278590 ⟹ ENSP00000278590 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000453089 ⟹ ENSP00000413094 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000528673 ⟹ ENSP00000431821 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001411037 ⟹ NP_001397966 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_033390 ⟹ NP_203748 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001397966 | (Get FASTA) | NCBI Sequence Viewer |
NP_203748 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | BAB21817 | (Get FASTA) | NCBI Sequence Viewer |
BAG58377 | (Get FASTA) | NCBI Sequence Viewer | |
BAG61159 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000278590 | ||
ENSP00000278590.3 | |||
ENSP00000413094.2 | |||
ENSP00000431821 | |||
ENSP00000431821.1 | |||
GenBank Protein | Q9C0D7 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_203748 ⟸ NM_033390 |
- Peptide Label: | isoform 1 |
- UniProtKB: | B4DI65 (UniProtKB/Swiss-Prot), B4DR47 (UniProtKB/Swiss-Prot), Q9C0D7 (UniProtKB/Swiss-Prot), E9PP00 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000413094 ⟸ ENST00000453089 |
RefSeq Acc Id: | ENSP00000431821 ⟸ ENST00000528673 |
RefSeq Acc Id: | ENSP00000278590 ⟸ ENST00000278590 |
RefSeq Acc Id: | NP_001397966 ⟸ NM_001411037 |
- Peptide Label: | isoform 2 |
- UniProtKB: | E9PP00 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9C0D7-F1-model_v2 | AlphaFold | Q9C0D7 | 1-883 | view protein structure |
RGD ID: | 6789593 | ||||||||
Promoter ID: | HG_KWN:14132 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | HeLa_S3, K562, Lymphoblastoid | ||||||||
Transcripts: | NM_033390 | ||||||||
Position: |
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RGD ID: | 6789595 | ||||||||
Promoter ID: | HG_KWN:14133 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Lymphoblastoid | ||||||||
Transcripts: | UC001PKQ.2, UC001PKR.2 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:29362 | AgrOrtholog |
COSMIC | ZC3H12C | COSMIC |
Ensembl Genes | ENSG00000149289 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000278590 | ENTREZGENE |
ENST00000278590.8 | UniProtKB/Swiss-Prot | |
ENST00000453089.2 | UniProtKB/TrEMBL | |
ENST00000528673 | ENTREZGENE | |
ENST00000528673.5 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 3.40.50.11980 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000149289 | GTEx |
HGNC ID | HGNC:29362 | ENTREZGENE |
Human Proteome Map | ZC3H12C | Human Proteome Map |
InterPro | Rege-1_UBA-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Regnase_1/ZC3H12_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RNase_Zc3h12_NYN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Znf_CCCH | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:85463 | UniProtKB/Swiss-Prot |
NCBI Gene | 85463 | ENTREZGENE |
OMIM | 615001 | OMIM |
PANTHER | N4BP1-RELATED | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RIBONUCLEASE ZC3H12C-RELATED | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Regnase_1_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RNase_Zc3h12a | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UBA_6 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA128394739 | PharmGKB |
PROSITE | ZF_C3H1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | B4DI65 | ENTREZGENE |
B4DR47 | ENTREZGENE | |
E9PP00 | ENTREZGENE, UniProtKB/TrEMBL | |
Q9C0D7 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | B4DI65 | UniProtKB/Swiss-Prot |
B4DR47 | UniProtKB/Swiss-Prot |