Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) more ... | 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 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | The double-stranded RNA-binding protein Staufen 2 regulates eye size. | Cockburn DM, etal., Mol Cell Neurosci. 2012 Nov;51(3-4):101-11. doi: 10.1016/j.mcn.2012.08.008. Epub 2012 Aug 24. |
2. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8889548 | PMID:10585778 | PMID:10707969 | PMID:12140260 | PMID:12477932 | PMID:14702039 | PMID:15024055 | PMID:15489334 | PMID:16169070 | PMID:16964243 | PMID:18094122 | PMID:19322201 |
PMID:19454010 | PMID:19946888 | PMID:21081503 | PMID:21145461 | PMID:21266579 | PMID:21508097 | PMID:21873635 | PMID:21903422 | PMID:22658674 | PMID:22681889 | PMID:23125361 | PMID:23263869 |
PMID:24144296 | PMID:24457600 | PMID:24520823 | PMID:24778252 | PMID:25665578 | PMID:26186194 | PMID:26496610 | PMID:26777405 | PMID:26843428 | PMID:26949251 | PMID:28302793 | PMID:28514442 |
PMID:29395067 | PMID:29509190 | PMID:29845934 | PMID:29955894 | PMID:30209976 | PMID:30463901 | PMID:30471916 | PMID:30561431 | PMID:30629181 | PMID:30833792 | PMID:31048545 | PMID:31332168 |
PMID:31343991 | PMID:31527615 | PMID:31586073 | PMID:31594818 | PMID:31640799 | PMID:32149426 | PMID:32513696 | PMID:32687490 | PMID:32707033 | PMID:32807901 | PMID:32877691 | PMID:32994395 |
PMID:33087562 | PMID:33301849 | PMID:33306668 | PMID:33441653 | PMID:33663378 | PMID:33916271 | PMID:33957083 | PMID:33961781 | PMID:34079125 | PMID:34159380 | PMID:34597346 | PMID:34732716 |
PMID:34767673 | PMID:34795231 | PMID:34960728 | PMID:35012549 | PMID:35013218 | PMID:35140242 | PMID:35211260 | PMID:35241646 | PMID:35271311 | PMID:35337019 | PMID:35338135 | PMID:35439318 |
PMID:35446349 | PMID:35509820 | PMID:35652658 | PMID:35777956 | PMID:35819319 | PMID:35944360 | PMID:36215168 | PMID:36232890 | PMID:36244648 | PMID:36252997 | PMID:36373674 | PMID:36526897 |
PMID:36643863 | PMID:36779422 | PMID:37439148 | PMID:37689310 | PMID:37827155 |
STAU2 (Homo sapiens - human) |
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Stau2 (Mus musculus - house mouse) |
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Stau2 (Rattus norvegicus - Norway rat) |
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Stau2 (Chinchilla lanigera - long-tailed chinchilla) |
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STAU2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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STAU2 (Canis lupus familiaris - dog) |
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Stau2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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STAU2 (Sus scrofa - pig) |
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STAU2 (Chlorocebus sabaeus - green monkey) |
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Stau2 (Heterocephalus glaber - naked mole-rat) |
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Variants in STAU2
29 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 | copy number gain | See cases [RCV000051206] | Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q21.11-21.13(chr8:73519300-82655582)x1 | copy number loss | See cases [RCV000051117] | Chr8:73519300..82655582 [GRCh38] Chr8:74431535..83567817 [GRCh37] Chr8:74594089..83730372 [NCBI36] Chr8:8q21.11-21.13 |
pathogenic |
GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3 | copy number gain | See cases [RCV000053653] | Chr8:57361243..79170078 [GRCh38] Chr8:58273802..80082313 [GRCh37] Chr8:58436356..80244868 [NCBI36] Chr8:8q12.1-21.13 |
pathogenic |
GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 | copy number gain | See cases [RCV000053654] | Chr8:61691800..82537696 [GRCh38] Chr8:62604359..83449931 [GRCh37] Chr8:62766913..83612486 [NCBI36] Chr8:8q12.3-21.13 |
pathogenic |
GRCh38/hg38 8q13.3-21.11(chr8:70948393-74353284)x3 | copy number gain | See cases [RCV000053655] | Chr8:70948393..74353284 [GRCh38] Chr8:71860628..75265519 [GRCh37] Chr8:72023182..75428074 [NCBI36] Chr8:8q13.3-21.11 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] | Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | See cases [RCV000053602] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
NM_001164380.1(STAU2):c.1223-6803A>G | single nucleotide variant | Lung cancer [RCV000107665] | Chr8:73559122 [GRCh38] Chr8:74471357 [GRCh37] Chr8:8q21.11 |
uncertain significance |
NM_001164380.1(STAU2):c.411-865G>T | single nucleotide variant | Lung cancer [RCV000107666] | Chr8:73618316 [GRCh38] Chr8:74530551 [GRCh37] Chr8:8q21.11 |
uncertain significance |
NM_001164380.1(STAU2):c.410+12674G>T | single nucleotide variant | Lung cancer [RCV000107667] | Chr8:73660433 [GRCh38] Chr8:74572668 [GRCh37] Chr8:8q21.11 |
uncertain significance |
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 | copy number gain | See cases [RCV000137050] | Chr8:66171669..93505509 [GRCh38] Chr8:67083904..94517737 [GRCh37] Chr8:67246458..94586913 [NCBI36] Chr8:8q13.1-22.1 |
pathogenic |
GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3 | copy number gain | See cases [RCV000138027] | Chr8:66633845..80100089 [GRCh38] Chr8:67546080..81012324 [GRCh37] Chr8:67708634..81174879 [NCBI36] Chr8:8q13.1-21.13 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 | copy number gain | See cases [RCV000138643] | Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 | copy number gain | See cases [RCV000139539] | Chr8:46031340..139285494 [GRCh38] Chr8:46942962..140297737 [GRCh37] Chr8:47062127..140366919 [NCBI36] Chr8:8q11.1-24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 | copy number gain | See cases [RCV000141808] | Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 | copy number gain | See cases [RCV000142021] | Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 | copy number gain | See cases [RCV000142858] | Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | See cases [RCV000148092] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3 | copy number gain | See cases [RCV000240367] | Chr8:70971013..82019151 [GRCh37] Chr8:8q13.3-21.13 |
likely pathogenic |
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 | copy number gain | not provided [RCV000848192] | Chr8:31936551..146295771 [GRCh37] Chr8:8p12-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 | copy number gain | See cases [RCV000447507] | Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) | copy number gain | See cases [RCV000510234] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 | copy number gain | See cases [RCV000511095] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 | copy number gain | See cases [RCV000512169] | Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 | copy number gain | not provided [RCV000747254] | Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 | copy number gain | not provided [RCV000747248] | Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_001164380.2(STAU2):c.789C>T (p.Arg263=) | single nucleotide variant | not provided [RCV000950168] | Chr8:73613846 [GRCh38] Chr8:74526081 [GRCh37] Chr8:8q21.11 |
benign |
NM_001164380.2(STAU2):c.931C>T (p.Arg311Cys) | single nucleotide variant | Inborn genetic diseases [RCV003248551] | Chr8:73603824 [GRCh38] Chr8:74516059 [GRCh37] Chr8:8q21.11 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 | copy number gain | not provided [RCV000848478] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_001164380.2(STAU2):c.1040G>T (p.Gly347Val) | single nucleotide variant | not provided [RCV000916882] | Chr8:73595287 [GRCh38] Chr8:74507522 [GRCh37] Chr8:8q21.11 |
benign |
NM_001164380.2(STAU2):c.1390A>G (p.Ile464Val) | single nucleotide variant | Inborn genetic diseases [RCV003276130] | Chr8:73552152 [GRCh38] Chr8:74464387 [GRCh37] Chr8:8q21.11 |
uncertain significance |
GRCh37/hg19 8q21.11(chr8:74275902-74626066)x3 | copy number gain | not provided [RCV001258415] | Chr8:74275902..74626066 [GRCh37] Chr8:8q21.11 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) | copy number gain | Polydactyly [RCV002280629] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_001164380.2(STAU2):c.226C>T (p.Pro76Ser) | single nucleotide variant | not provided [RCV002251788] | Chr8:73688702 [GRCh38] Chr8:74600937 [GRCh37] Chr8:8q21.11 |
uncertain significance |
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) | copy number gain | not specified [RCV002053772] | Chr8:70382990..146295771 [GRCh37] Chr8:8q13.2-24.3 |
pathogenic |
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 | copy number gain | See cases [RCV002292707] | Chr8:68912432..146295771 [GRCh37] Chr8:8q13.2-24.3 |
pathogenic |
NM_001164380.2(STAU2):c.1424C>A (p.Ser475Tyr) | single nucleotide variant | Inborn genetic diseases [RCV003285801] | Chr8:73552118 [GRCh38] Chr8:74464353 [GRCh37] Chr8:8q21.11 |
uncertain significance |
GRCh37/hg19 8q21.11(chr8:74515647-75122801)x4 | copy number gain | not provided [RCV002474943] | Chr8:74515647..75122801 [GRCh37] Chr8:8q21.11 |
uncertain significance |
NM_001164380.2(STAU2):c.220A>G (p.Thr74Ala) | single nucleotide variant | Inborn genetic diseases [RCV002991135] | Chr8:73688708 [GRCh38] Chr8:74600943 [GRCh37] Chr8:8q21.11 |
uncertain significance |
NM_001164380.2(STAU2):c.1505A>G (p.Tyr502Cys) | single nucleotide variant | Inborn genetic diseases [RCV002902233] | Chr8:73552037 [GRCh38] Chr8:74464272 [GRCh37] Chr8:8q21.11 |
uncertain significance |
NM_001164380.2(STAU2):c.1387A>G (p.Thr463Ala) | single nucleotide variant | Inborn genetic diseases [RCV002683075] | Chr8:73552155 [GRCh38] Chr8:74464390 [GRCh37] Chr8:8q21.11 |
uncertain significance |
NM_001164380.2(STAU2):c.1325A>G (p.Lys442Arg) | single nucleotide variant | Inborn genetic diseases [RCV002868119] | Chr8:73552217 [GRCh38] Chr8:74464452 [GRCh37] Chr8:8q21.11 |
uncertain significance |
NM_001164380.2(STAU2):c.1393G>A (p.Ala465Thr) | single nucleotide variant | Inborn genetic diseases [RCV002893378] | Chr8:73552149 [GRCh38] Chr8:74464384 [GRCh37] Chr8:8q21.11 |
uncertain significance |
NM_001164380.2(STAU2):c.1093G>T (p.Ala365Ser) | single nucleotide variant | Inborn genetic diseases [RCV002698273] | Chr8:73595234 [GRCh38] Chr8:74507469 [GRCh37] Chr8:8q21.11 |
uncertain significance |
NM_001164380.2(STAU2):c.1675A>G (p.Ile559Val) | single nucleotide variant | Inborn genetic diseases [RCV002955396] | Chr8:73421410 [GRCh38] Chr8:74333645 [GRCh37] Chr8:8q21.11 |
uncertain significance |
NM_001164380.2(STAU2):c.1280G>A (p.Arg427His) | single nucleotide variant | Inborn genetic diseases [RCV002940481] | Chr8:73552262 [GRCh38] Chr8:74464497 [GRCh37] Chr8:8q21.11 |
uncertain significance |
NM_001164380.2(STAU2):c.1078A>G (p.Ile360Val) | single nucleotide variant | Inborn genetic diseases [RCV002941548] | Chr8:73595249 [GRCh38] Chr8:74507484 [GRCh37] Chr8:8q21.11 |
uncertain significance |
NM_001164380.2(STAU2):c.869A>G (p.Lys290Arg) | single nucleotide variant | Inborn genetic diseases [RCV003202094] | Chr8:73613766 [GRCh38] Chr8:74526001 [GRCh37] Chr8:8q21.11 |
uncertain significance |
NM_001164380.2(STAU2):c.1102G>A (p.Ala368Thr) | single nucleotide variant | Inborn genetic diseases [RCV003195641] | Chr8:73595225 [GRCh38] Chr8:74507460 [GRCh37] Chr8:8q21.11 |
uncertain significance |
NM_001164380.2(STAU2):c.1607G>T (p.Gly536Val) | single nucleotide variant | Inborn genetic diseases [RCV003349076] | Chr8:73422626 [GRCh38] Chr8:74334861 [GRCh37] Chr8:8q21.11 |
uncertain significance |
NM_001164380.2(STAU2):c.1678G>A (p.Ala560Thr) | single nucleotide variant | Inborn genetic diseases [RCV003367615] | Chr8:73421407 [GRCh38] Chr8:74333642 [GRCh37] Chr8:8q21.11 |
uncertain significance |
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 | copy number gain | not specified [RCV003986754] | Chr8:27024288..89410121 [GRCh37] Chr8:8p21.2-q21.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 | copy number gain | not specified [RCV003986742] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
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. |
RH12642 |
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D8S1982 |
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SHGC-34599 |
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RH93062 |
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RH94104 |
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SHGC-78998 |
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SHGC-85153 |
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RH122246 |
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G63477 |
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WI-17983 |
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WI-14265 |
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STS-AA027159 |
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A008X48 |
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SHGC-56844 |
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D8S1387E |
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RH44506 |
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WI-16800 |
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AFMB336XG5 |
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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 | ||||||||||||||||||
Medium | 404 | 705 | 327 | 112 | 699 | 83 | 1426 | 999 | 1619 | 229 | 425 | 636 | 43 | 1 | 208 | 1030 | 3 | 2 |
Low | 2035 | 2264 | 1399 | 512 | 1234 | 382 | 2931 | 1194 | 2115 | 189 | 1035 | 977 | 131 | 996 | 1758 | 3 | ||
Below cutoff | 22 | 18 | 4 | 1 |
RefSeq Transcripts | NM_001164380 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001164381 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001164382 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001164383 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001164384 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001164385 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_014393 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB210014 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC018620 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC027018 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC100784 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF459097 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF459098 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK001576 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK002152 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK023314 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK290141 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK293496 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK293729 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK294466 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK303104 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK307841 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK314617 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL079285 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL079286 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL079288 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC008369 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC008370 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC071766 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC110447 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC110448 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CA311807 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471068 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068270 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR627442 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB501161 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF458781 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
Y19062 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000355780 ⟹ ENSP00000348026 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000517542 ⟹ ENSP00000431111 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000518502 ⟹ ENSP00000428284 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000518767 ⟹ ENSP00000429005 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000518981 ⟹ ENSP00000428664 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000519818 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000519961 ⟹ ENSP00000430907 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000520872 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000520945 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000521210 ⟹ ENSP00000429173 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000521293 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000521419 ⟹ ENSP00000428681 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000521447 ⟹ ENSP00000428829 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000521451 ⟹ ENSP00000428476 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000521727 ⟹ ENSP00000429973 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000521736 ⟹ ENSP00000428737 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000521845 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000522061 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000522509 ⟹ ENSP00000427977 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000522695 ⟹ ENSP00000428456 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000522818 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000522962 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000523160 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000523533 ⟹ ENSP00000430511 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000523558 ⟹ ENSP00000428741 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000524104 ⟹ ENSP00000430611 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000524113 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000524191 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000524300 ⟹ ENSP00000428756 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001164380 ⟹ NP_001157852 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001164381 ⟹ NP_001157853 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001164382 ⟹ NP_001157854 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001164383 ⟹ NP_001157855 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001164384 ⟹ NP_001157856 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001164385 ⟹ NP_001157857 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_014393 ⟹ NP_055208 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_001157852 | (Get FASTA) | NCBI Sequence Viewer |
NP_001157853 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001157854 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001157855 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001157856 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001157857 | (Get FASTA) | NCBI Sequence Viewer | |
NP_055208 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH08369 | (Get FASTA) | NCBI Sequence Viewer |
AAH08370 | (Get FASTA) | NCBI Sequence Viewer | |
AAI10448 | (Get FASTA) | NCBI Sequence Viewer | |
AAN37926 | (Get FASTA) | NCBI Sequence Viewer | |
AAN37927 | (Get FASTA) | NCBI Sequence Viewer | |
BAA91766 | (Get FASTA) | NCBI Sequence Viewer | |
BAA92111 | (Get FASTA) | NCBI Sequence Viewer | |
BAB14522 | (Get FASTA) | NCBI Sequence Viewer | |
BAE06096 | (Get FASTA) | NCBI Sequence Viewer | |
BAF82830 | (Get FASTA) | NCBI Sequence Viewer | |
BAG37183 | (Get FASTA) | NCBI Sequence Viewer | |
BAH11522 | (Get FASTA) | NCBI Sequence Viewer | |
BAH11582 | (Get FASTA) | NCBI Sequence Viewer | |
BAH11778 | (Get FASTA) | NCBI Sequence Viewer | |
BAH13900 | (Get FASTA) | NCBI Sequence Viewer | |
CAB64341 | (Get FASTA) | NCBI Sequence Viewer | |
CAH10527 | (Get FASTA) | NCBI Sequence Viewer | |
EAW87003 | (Get FASTA) | NCBI Sequence Viewer | |
EAW87004 | (Get FASTA) | NCBI Sequence Viewer | |
EAW87005 | (Get FASTA) | NCBI Sequence Viewer | |
EAW87006 | (Get FASTA) | NCBI Sequence Viewer | |
EAW87007 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000348026 | ||
ENSP00000348026.5 | |||
ENSP00000427977 | |||
ENSP00000427977.1 | |||
ENSP00000428284.1 | |||
ENSP00000428456 | |||
ENSP00000428456.1 | |||
ENSP00000428476.1 | |||
ENSP00000428664.1 | |||
ENSP00000428681.1 | |||
ENSP00000428737.1 | |||
ENSP00000428741 | |||
ENSP00000428741.1 | |||
ENSP00000428756 | |||
ENSP00000428756.1 | |||
ENSP00000428829.1 | |||
ENSP00000429005.1 | |||
ENSP00000429173 | |||
ENSP00000429173.1 | |||
ENSP00000429973.1 | |||
ENSP00000430511.1 | |||
ENSP00000430611.1 | |||
ENSP00000430907.1 | |||
ENSP00000431111 | |||
ENSP00000431111.1 | |||
GenBank Protein | Q9NUL3 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001157852 ⟸ NM_001164380 |
- Peptide Label: | isoform a |
- UniProtKB: | Q9NVI5 (UniProtKB/Swiss-Prot), Q96HM1 (UniProtKB/Swiss-Prot), Q96HM0 (UniProtKB/Swiss-Prot), Q6AHY7 (UniProtKB/Swiss-Prot), E9PF50 (UniProtKB/Swiss-Prot), E9PF26 (UniProtKB/Swiss-Prot), E9PEI3 (UniProtKB/Swiss-Prot), E7ER74 (UniProtKB/Swiss-Prot), B7Z8B4 (UniProtKB/Swiss-Prot), B7Z292 (UniProtKB/Swiss-Prot), B7Z1I6 (UniProtKB/Swiss-Prot), Q9UGG6 (UniProtKB/Swiss-Prot), Q9NUL3 (UniProtKB/Swiss-Prot), A0A0A0MTC5 (UniProtKB/TrEMBL), E7EVJ4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001157853 ⟸ NM_001164381 |
- Peptide Label: | isoform b |
- UniProtKB: | A8K276 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001157854 ⟸ NM_001164382 |
- Peptide Label: | isoform c |
- UniProtKB: | A8K276 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001157855 ⟸ NM_001164383 |
- Peptide Label: | isoform d |
- UniProtKB: | E5RJN7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001157856 ⟸ NM_001164384 |
- Peptide Label: | isoform e |
- UniProtKB: | A8K276 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_055208 ⟸ NM_014393 |
- Peptide Label: | isoform e |
- UniProtKB: | A8K276 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001157857 ⟸ NM_001164385 |
- Peptide Label: | isoform f |
- UniProtKB: | A8K276 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000431111 ⟸ ENST00000517542 |
RefSeq Acc Id: | ENSP00000428664 ⟸ ENST00000518981 |
RefSeq Acc Id: | ENSP00000429005 ⟸ ENST00000518767 |
RefSeq Acc Id: | ENSP00000428284 ⟸ ENST00000518502 |
RefSeq Acc Id: | ENSP00000430907 ⟸ ENST00000519961 |
RefSeq Acc Id: | ENSP00000429173 ⟸ ENST00000521210 |
RefSeq Acc Id: | ENSP00000429973 ⟸ ENST00000521727 |
RefSeq Acc Id: | ENSP00000428737 ⟸ ENST00000521736 |
RefSeq Acc Id: | ENSP00000428681 ⟸ ENST00000521419 |
RefSeq Acc Id: | ENSP00000428829 ⟸ ENST00000521447 |
RefSeq Acc Id: | ENSP00000428476 ⟸ ENST00000521451 |
RefSeq Acc Id: | ENSP00000428456 ⟸ ENST00000522695 |
RefSeq Acc Id: | ENSP00000427977 ⟸ ENST00000522509 |
RefSeq Acc Id: | ENSP00000430511 ⟸ ENST00000523533 |
RefSeq Acc Id: | ENSP00000428741 ⟸ ENST00000523558 |
RefSeq Acc Id: | ENSP00000428756 ⟸ ENST00000524300 |
RefSeq Acc Id: | ENSP00000430611 ⟸ ENST00000524104 |
RefSeq Acc Id: | ENSP00000348026 ⟸ ENST00000355780 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9NUL3-F1-model_v2 | AlphaFold | Q9NUL3 | 1-570 | view protein structure |
RGD ID: | 7213535 | ||||||||
Promoter ID: | EPDNEW_H12513 | ||||||||
Type: | initiation region | ||||||||
Name: | STAU2_1 | ||||||||
Description: | staufen double-stranded RNA binding protein 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H12514 EPDNEW_H12515 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7213537 | ||||||||
Promoter ID: | EPDNEW_H12514 | ||||||||
Type: | initiation region | ||||||||
Name: | STAU2_2 | ||||||||
Description: | staufen double-stranded RNA binding protein 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H12513 EPDNEW_H12515 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7213539 | ||||||||
Promoter ID: | EPDNEW_H12515 | ||||||||
Type: | initiation region | ||||||||
Name: | STAU2_3 | ||||||||
Description: | staufen double-stranded RNA binding protein 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H12513 EPDNEW_H12514 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6807050 | ||||||||
Promoter ID: | HG_KWN:61527 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Jurkat | ||||||||
Transcripts: | UC003XZO.1 | ||||||||
Position: |
|
RGD ID: | 6807051 | ||||||||
Promoter ID: | HG_KWN:61528 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000355780, NM_001164380, NM_001164381, NM_001164382, NM_001164383, NM_001164384, NM_001164385, UC003XZQ.1, UC003XZR.2, UC003XZS.2, UC010LZL.1 | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:11371 | AgrOrtholog |
COSMIC | STAU2 | COSMIC |
Ensembl Genes | ENSG00000040341 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000355780 | ENTREZGENE |
ENST00000355780.9 | UniProtKB/Swiss-Prot | |
ENST00000517542 | ENTREZGENE | |
ENST00000517542.5 | UniProtKB/Swiss-Prot | |
ENST00000518502.5 | UniProtKB/TrEMBL | |
ENST00000518767.5 | UniProtKB/TrEMBL | |
ENST00000518981.5 | UniProtKB/TrEMBL | |
ENST00000519961.5 | UniProtKB/TrEMBL | |
ENST00000521210 | ENTREZGENE | |
ENST00000521210.5 | UniProtKB/Swiss-Prot | |
ENST00000521419.5 | UniProtKB/TrEMBL | |
ENST00000521447.5 | UniProtKB/TrEMBL | |
ENST00000521451.5 | UniProtKB/Swiss-Prot | |
ENST00000521727.5 | UniProtKB/TrEMBL | |
ENST00000521736.5 | UniProtKB/TrEMBL | |
ENST00000522509 | ENTREZGENE | |
ENST00000522509.5 | UniProtKB/Swiss-Prot | |
ENST00000522695 | ENTREZGENE | |
ENST00000522695.5 | UniProtKB/Swiss-Prot | |
ENST00000523533.5 | UniProtKB/TrEMBL | |
ENST00000523558 | ENTREZGENE | |
ENST00000523558.5 | UniProtKB/Swiss-Prot | |
ENST00000524104.5 | UniProtKB/Swiss-Prot | |
ENST00000524300 | ENTREZGENE | |
ENST00000524300.6 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 3.30.160.20 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
6.10.250.1360 | UniProtKB/TrEMBL | |
GTEx | ENSG00000040341 | GTEx |
HGNC ID | HGNC:11371 | ENTREZGENE |
Human Proteome Map | STAU2 | Human Proteome Map |
InterPro | dsRBD_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
STAU2_DSRM_1 | UniProtKB/TrEMBL | |
STAU2_DSRM_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
STAU2_DSRM_3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
STAU2_DSRM_4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Staufen_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:27067 | UniProtKB/Swiss-Prot |
NCBI Gene | 27067 | ENTREZGENE |
OMIM | 605920 | OMIM |
PANTHER | DOUBLE-STRANDED RNA-BINDING PROTEIN STAUFEN HOMOLOG 2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
MATERNAL EFFECT PROTEIN STAUFEN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | dsrm | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Staufen_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA36189 | PharmGKB |
PROSITE | DS_RBD | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SMART | DSRM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | dsRNA-binding domain-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A0A0MTC5 | ENTREZGENE |
A8K276 | ENTREZGENE, UniProtKB/TrEMBL | |
B7Z1I6 | ENTREZGENE | |
B7Z292 | ENTREZGENE | |
B7Z8B4 | ENTREZGENE | |
E5RFK1_HUMAN | UniProtKB/TrEMBL | |
E5RGQ5_HUMAN | UniProtKB/TrEMBL | |
E5RGT3_HUMAN | UniProtKB/TrEMBL | |
E5RJ67_HUMAN | UniProtKB/TrEMBL | |
E5RJN7 | ENTREZGENE, UniProtKB/TrEMBL | |
E7EPX0_HUMAN | UniProtKB/TrEMBL | |
E7ER74 | ENTREZGENE | |
E7EVI1_HUMAN | UniProtKB/TrEMBL | |
E7EVJ4 | ENTREZGENE, UniProtKB/TrEMBL | |
E9PEI3 | ENTREZGENE | |
E9PF26 | ENTREZGENE | |
E9PF50 | ENTREZGENE | |
H0YBY0_HUMAN | UniProtKB/TrEMBL | |
Q2TBD5_HUMAN | UniProtKB/TrEMBL | |
Q4LE57_HUMAN | UniProtKB/TrEMBL | |
Q6AHY7 | ENTREZGENE | |
Q96HM0 | ENTREZGENE | |
Q96HM1 | ENTREZGENE | |
Q9NUL3 | ENTREZGENE | |
Q9NVI5 | ENTREZGENE | |
Q9UGG6 | ENTREZGENE | |
STAU2_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | A0A0A0MTC5 | UniProtKB/Swiss-Prot |
B7Z1I6 | UniProtKB/Swiss-Prot | |
B7Z292 | UniProtKB/Swiss-Prot | |
B7Z8B4 | UniProtKB/Swiss-Prot | |
E7ER74 | UniProtKB/Swiss-Prot | |
E9PEI3 | UniProtKB/Swiss-Prot | |
E9PF26 | UniProtKB/Swiss-Prot | |
E9PF50 | UniProtKB/Swiss-Prot | |
Q6AHY7 | UniProtKB/Swiss-Prot | |
Q96HM0 | UniProtKB/Swiss-Prot | |
Q96HM1 | UniProtKB/Swiss-Prot | |
Q9NVI5 | UniProtKB/Swiss-Prot | |
Q9UGG6 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2013-06-11 | STAU2 | staufen double-stranded RNA binding protein 2 | STAU2 | staufen, RNA binding protein, homolog 2 (Drosophila) | Symbol and/or name change | 5135510 | APPROVED |