Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | gastrointestinal stromal tumor | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:27793025 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | gastrointestinal stromal tumor | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:27793025 | |
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# | Reference Title | Reference Citation |
1. | Structures of the human and Drosophila 80S ribosome. | Anger AM, etal., Nature. 2013 May 2;497(7447):80-5. doi: 10.1038/nature12104. |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:7821789 | PMID:8012384 | PMID:8428672 | PMID:8722009 | PMID:9582194 | PMID:11401437 | PMID:11875025 | PMID:12477932 | PMID:12962325 | PMID:14567916 | PMID:15189156 | PMID:15231747 |
PMID:15489334 | PMID:16009940 | PMID:17081983 | PMID:17220478 | PMID:17353931 | PMID:17361185 | PMID:18457437 | PMID:19167051 | PMID:19738201 | PMID:19946888 | PMID:20085233 | PMID:20391533 |
PMID:20458337 | PMID:21081503 | PMID:21145461 | PMID:21151833 | PMID:21182205 | PMID:21280222 | PMID:21873635 | PMID:22354994 | PMID:22658674 | PMID:22681889 | PMID:22863883 | PMID:22939629 |
PMID:23084401 | PMID:23125841 | PMID:23184937 | PMID:23246001 | PMID:23376485 | PMID:23398456 | PMID:23443559 | PMID:23463506 | PMID:24163370 | PMID:24457600 | PMID:24625528 | PMID:24657165 |
PMID:24965446 | PMID:24970821 | PMID:25324306 | PMID:25437307 | PMID:25468996 | PMID:25520117 | PMID:25662211 | PMID:25796446 | PMID:25798074 | PMID:25901680 | PMID:25957688 | PMID:25963833 |
PMID:26170170 | PMID:26186194 | PMID:26209609 | PMID:26344197 | PMID:26496610 | PMID:26527279 | PMID:26618866 | PMID:26673895 | PMID:26831064 | PMID:27025967 | PMID:27049334 | PMID:27684187 |
PMID:27976729 | PMID:28186131 | PMID:28302793 | PMID:28514442 | PMID:28515276 | PMID:28561026 | PMID:28581483 | PMID:28700943 | PMID:28712289 | PMID:28902428 | PMID:28927264 | PMID:28977666 |
PMID:29228324 | PMID:29229926 | PMID:29298432 | PMID:29331416 | PMID:29467282 | PMID:29507755 | PMID:29721183 | PMID:29777862 | PMID:29802200 | PMID:29845934 | PMID:29955894 | PMID:29991511 |
PMID:30021884 | PMID:30033366 | PMID:30209976 | PMID:30320934 | PMID:30344098 | PMID:30349055 | PMID:30425250 | PMID:30463901 | PMID:30575818 | PMID:30804502 | PMID:30948266 | PMID:30997501 |
PMID:31048545 | PMID:31059266 | PMID:31091453 | PMID:31177093 | PMID:31180492 | PMID:31239290 | PMID:31248990 | PMID:31253590 | PMID:31298480 | PMID:31300519 | PMID:31324722 | PMID:31501420 |
PMID:31586073 | PMID:31980649 | PMID:32041737 | PMID:32129710 | PMID:32457219 | PMID:32529326 | PMID:32552912 | PMID:32665550 | PMID:32669547 | PMID:32698014 | PMID:32807901 | PMID:32814769 |
PMID:32929329 | PMID:32994395 | PMID:33022573 | PMID:33141564 | PMID:33194618 | PMID:33239621 | PMID:33306668 | PMID:33397691 | PMID:33567341 | PMID:33644029 | PMID:33658012 | PMID:33729478 |
PMID:33766124 | PMID:33838681 | PMID:33916271 | PMID:33961781 | PMID:33989516 | PMID:34029587 | PMID:34039624 | PMID:34077860 | PMID:34079125 | PMID:34091597 | PMID:34185411 | PMID:34226595 |
PMID:34314702 | PMID:34373451 | PMID:34591877 | PMID:34619150 | PMID:34650049 | PMID:34901782 | PMID:34921745 | PMID:35013218 | PMID:35032548 | PMID:35140242 | PMID:35182466 | PMID:35256949 |
PMID:35264565 | PMID:35271311 | PMID:35338135 | PMID:35384245 | PMID:35439318 | PMID:35446349 | PMID:35509820 | PMID:35562734 | PMID:35563538 | PMID:35583604 | PMID:35676659 | PMID:35819319 |
PMID:35831314 | PMID:35844135 | PMID:35850772 | PMID:35944360 | PMID:36042349 | PMID:36057605 | PMID:36180527 | PMID:36199071 | PMID:36215168 | PMID:36273042 | PMID:36282215 | PMID:36307841 |
PMID:36380368 | PMID:36424410 | PMID:36517590 | PMID:36526897 | PMID:36537216 | PMID:36574265 | PMID:36880596 | PMID:36912080 | PMID:37151849 | PMID:37616343 | PMID:37827155 | PMID:38113892 |
PMID:38172120 | PMID:38261097 |
RPL24 (Homo sapiens - human) |
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Rpl24 (Mus musculus - house mouse) |
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Rpl24 (Rattus norvegicus - Norway rat) |
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Rpl24 (Chinchilla lanigera - long-tailed chinchilla) |
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RPL24 (Pan paniscus - bonobo/pygmy chimpanzee) |
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RPL24 (Canis lupus familiaris - dog) |
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Rpl24 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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RPL24 (Sus scrofa - pig) |
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RPL24 (Chlorocebus sabaeus - green monkey) |
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Rpl24 (Heterocephalus glaber - naked mole-rat) |
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Variants in RPL24
4 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1 | copy number loss | See cases [RCV000051543] | Chr3:93886671..123216683 [GRCh38] Chr3:93605515..122935530 [GRCh37] Chr3:95088205..124418220 [NCBI36] Chr3:3q11.1-21.1 |
pathogenic |
GRCh38/hg38 3q12.3(chr3:101596165-102374145)x3 | copy number gain | See cases [RCV000134705] | Chr3:101596165..102374145 [GRCh38] Chr3:101315009..102092989 [GRCh37] Chr3:102797699..103575679 [NCBI36] Chr3:3q12.3 |
likely benign |
GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1 | copy number loss | See cases [RCV000135320] | Chr3:93819623..116887056 [GRCh38] Chr3:93538467..116605903 [GRCh37] Chr3:95021157..118088593 [NCBI36] Chr3:3q11.1-13.31 |
pathogenic |
GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1 | copy number loss | See cases [RCV000138186] | Chr3:97795369..115663349 [GRCh38] Chr3:97514213..115382196 [GRCh37] Chr3:98996903..116864886 [NCBI36] Chr3:3q11.2-13.31 |
pathogenic|uncertain significance |
GRCh38/hg38 3q12.3(chr3:101626311-101744959)x3 | copy number gain | See cases [RCV000141405] | Chr3:101626311..101744959 [GRCh38] Chr3:101345155..101463803 [GRCh37] Chr3:102827845..102946493 [NCBI36] Chr3:3q12.3 |
uncertain significance |
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 | copy number gain | See cases [RCV000142340] | Chr3:93800620..145695381 [GRCh38] Chr3:93519464..145413168 [GRCh37] Chr3:95002154..146895858 [NCBI36] Chr3:3q11.1-24 |
pathogenic |
GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3 | copy number gain | See cases [RCV000143259] | Chr3:93819623..103888749 [GRCh38] Chr3:93538467..103607593 [GRCh37] Chr3:95021157..105090283 [NCBI36] Chr3:3q11.1-13.11 |
likely pathogenic|uncertain significance |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 | copy number gain | See cases [RCV000511055] | Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) | copy number gain | See cases [RCV000512358] | Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 | copy number gain | not provided [RCV000742138] | Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3q12.2-13.13(chr3:100613996-108976446)x3 | copy number gain | not provided [RCV000742661] | Chr3:100613996..108976446 [GRCh37] Chr3:3q12.2-13.13 |
likely pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 | copy number gain | not provided [RCV000742133] | Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3q12.3(chr3:101389193-101409665)x3 | copy number gain | not provided [RCV000742665] | Chr3:101389193..101409665 [GRCh37] Chr3:3q12.3 |
benign |
GRCh37/hg19 3q11.2-12.3(chr3:95563096-102371126)x1 | copy number loss | not provided [RCV001259224] | Chr3:95563096..102371126 [GRCh37] Chr3:3q11.2-12.3 |
likely pathogenic |
GRCh37/hg19 3q12.3(chr3:101191611-101938521) | copy number gain | not specified [RCV002053365] | Chr3:101191611..101938521 [GRCh37] Chr3:3q12.3 |
uncertain significance |
NC_000003.11:g.(?_100945813)_(101484395_?)del | deletion | not provided [RCV001926522] | Chr3:100945813..101484395 [GRCh37] Chr3:3q12.3 |
pathogenic |
NM_000986.4(RPL24):c.139C>T (p.Arg47Trp) | single nucleotide variant | Inborn genetic diseases [RCV002860647] | Chr3:101685871 [GRCh38] Chr3:101404715 [GRCh37] Chr3:3q12.3 |
uncertain significance |
NM_000986.4(RPL24):c.305A>G (p.Lys102Arg) | single nucleotide variant | Inborn genetic diseases [RCV002877896] | Chr3:101682795 [GRCh38] Chr3:101401639 [GRCh37] Chr3:3q12.3 |
uncertain significance |
GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1 | copy number loss | Chromosome 3q13.31 deletion syndrome [RCV003327614] | Chr3:93979547..124774010 [GRCh38] Chr3:3q11.1-21.2 |
pathogenic |
GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3 | copy number gain | not specified [RCV003986472] | Chr3:93519465..101464485 [GRCh37] Chr3:3q11.1-12.3 |
uncertain significance |
GRCh37/hg19 3q12.2-13.11(chr3:100369522-104621416)x1 | copy number loss | not specified [RCV003986403] | Chr3:100369522..104621416 [GRCh37] Chr3:3q12.2-13.11 |
uncertain significance |
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. |
RH47183 |
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SHGC-77157 |
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SGC32636 |
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GDB:451646 |
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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 | pharyngeal arch | |
High | 665 | 823 | 646 | 20 | 175 | 3 | 1859 | 287 | 512 | 48 | 667 | 665 | 20 | 582 | 1152 | 1 | ||
Medium | 1774 | 2168 | 1080 | 604 | 1776 | 462 | 2498 | 1910 | 3222 | 371 | 793 | 948 | 155 | 1 | 622 | 1636 | 5 | 2 |
Low | ||||||||||||||||||
Below cutoff |
RefSeq Transcripts | NM_000986 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AB007177 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AB061828 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC084198 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK311992 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC000690 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC070193 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU754101 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CD513036 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471052 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068275 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR456729 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
D28400 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU668341 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M94314 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
Z64316 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000394077 ⟹ ENSP00000377640 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000464595 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000469605 ⟹ ENSP00000420380 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000470961 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000488288 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000495401 ⟹ ENSP00000419179 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000704284 ⟹ ENSP00000515814 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000704285 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000704286 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000704287 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000704288 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_000986 ⟹ NP_000977 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_000977 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAC28251 | (Get FASTA) | NCBI Sequence Viewer |
AAH00690 | (Get FASTA) | NCBI Sequence Viewer | |
AAH70193 | (Get FASTA) | NCBI Sequence Viewer | |
ACF94494 | (Get FASTA) | NCBI Sequence Viewer | |
BAA05766 | (Get FASTA) | NCBI Sequence Viewer | |
BAA25836 | (Get FASTA) | NCBI Sequence Viewer | |
BAB79466 | (Get FASTA) | NCBI Sequence Viewer | |
BAG34930 | (Get FASTA) | NCBI Sequence Viewer | |
CAG33010 | (Get FASTA) | NCBI Sequence Viewer | |
EAW79780 | (Get FASTA) | NCBI Sequence Viewer | |
EAW79781 | (Get FASTA) | NCBI Sequence Viewer | |
EAW79782 | (Get FASTA) | NCBI Sequence Viewer | |
EAW79783 | (Get FASTA) | NCBI Sequence Viewer | |
EAW79784 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000377640 | ||
ENSP00000377640.3 | |||
ENSP00000419179.1 | |||
ENSP00000420380.1 | |||
ENSP00000515814.1 | |||
GenBank Protein | P83731 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_000977 ⟸ NM_000986 |
- UniProtKB: | P38663 (UniProtKB/Swiss-Prot), B2R4Y3 (UniProtKB/Swiss-Prot), Q6IBS3 (UniProtKB/Swiss-Prot), P83731 (UniProtKB/Swiss-Prot), V9HW01 (UniProtKB/TrEMBL), A0A994J4A5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000420380 ⟸ ENST00000469605 |
RefSeq Acc Id: | ENSP00000419179 ⟸ ENST00000495401 |
RefSeq Acc Id: | ENSP00000377640 ⟸ ENST00000394077 |
RefSeq Acc Id: | ENSP00000515814 ⟸ ENST00000704284 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P83731-F1-model_v2 | AlphaFold | P83731 | 1-157 | view protein structure |
RGD ID: | 6865150 | ||||||||
Promoter ID: | EPDNEW_H5740 | ||||||||
Type: | initiation region | ||||||||
Name: | RPL24_1 | ||||||||
Description: | ribosomal protein L24 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6852578 | ||||||||
Promoter ID: | EP74101 | ||||||||
Type: | initiation region | ||||||||
Name: | HS_RPL24 | ||||||||
Description: | Ribosomal protein L24. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Mammalian gene collection (MGC) full-length cDNA cloning | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:10325 | AgrOrtholog |
COSMIC | RPL24 | COSMIC |
Ensembl Genes | ENSG00000114391 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000394077 | ENTREZGENE |
ENST00000394077.8 | UniProtKB/Swiss-Prot | |
ENST00000469605.2 | UniProtKB/TrEMBL | |
ENST00000495401.5 | UniProtKB/TrEMBL | |
ENST00000704284.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.30.170.20 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
6.10.250.1270 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000114391 | GTEx |
HGNC ID | HGNC:10325 | ENTREZGENE |
Human Proteome Map | RPL24 | Human Proteome Map |
InterPro | L24e/L24_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ribosomal_L24e-rel | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ribosomal_L24e_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TRASH_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:6152 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 6152 | ENTREZGENE |
OMIM | 604180 | OMIM |
PANTHER | 60S RIBOSOMAL PROTEIN L24 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR10792 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TRASH DOMAIN-CONTAINING PROTEIN | UniProtKB/TrEMBL | |
Pfam | Ribosomal_L24e | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA34701 | PharmGKB |
PROSITE | RIBOSOMAL_L24E | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SMART | TRASH | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | Glucocorticoid receptor-like (DNA-binding domain) | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A994J4A5 | ENTREZGENE, UniProtKB/TrEMBL |
B2R4Y3 | ENTREZGENE | |
C9JNW5_HUMAN | UniProtKB/TrEMBL | |
C9JXB8_HUMAN | UniProtKB/TrEMBL | |
P38663 | ENTREZGENE | |
P83731 | ENTREZGENE | |
Q6IBS3 | ENTREZGENE | |
RL24_HUMAN | UniProtKB/Swiss-Prot | |
V9HW01 | ENTREZGENE, UniProtKB/TrEMBL | |
UniProt Secondary | B2R4Y3 | UniProtKB/Swiss-Prot |
P38663 | UniProtKB/Swiss-Prot | |
Q6IBS3 | UniProtKB/Swiss-Prot |