Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive nonsyndromic deafness 107 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive nonsyndromic deafness 107 | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:7644498 | PMID:9169421 | PMID:9202023 | PMID:11042109 | PMID:12477932 | PMID:14531730 | PMID:14702039 | PMID:15489334 | PMID:16055720 | PMID:16094384 | PMID:16169070 | PMID:16344560 |
PMID:16751776 | PMID:16772533 | PMID:18624398 | PMID:19364824 | PMID:19953087 | PMID:20972459 | PMID:21399621 | PMID:21516116 | PMID:21642474 | PMID:21873635 | PMID:21981024 | PMID:22939629 |
PMID:23233354 | PMID:23824909 | PMID:24255178 | PMID:24366813 | PMID:24550385 | PMID:25036637 | PMID:25071155 | PMID:25283809 | PMID:25416956 | PMID:25751139 | PMID:26371805 | PMID:26496610 |
PMID:26508657 | PMID:26549023 | PMID:26881968 | PMID:26933062 | PMID:27182664 | PMID:27578003 | PMID:27609421 | PMID:27684187 | PMID:28332498 | PMID:28391353 | PMID:28461335 | PMID:28470758 |
PMID:29497031 | PMID:29599191 | PMID:29937544 | PMID:30021884 | PMID:30022168 | PMID:30442712 | PMID:30472188 | PMID:30593516 | PMID:30619736 | PMID:30865227 | PMID:31048545 | PMID:31340145 |
PMID:31578285 | PMID:31586073 | PMID:32296183 | PMID:32393834 | PMID:32513696 | PMID:32687490 | PMID:33144569 | PMID:33277362 | PMID:33475198 | PMID:33658485 | PMID:33837178 | PMID:33845483 |
PMID:33961781 | PMID:34117091 | PMID:34197030 | PMID:35044719 | PMID:35271311 | PMID:35331737 | PMID:35914814 | PMID:36215168 | PMID:36446968 | PMID:38280479 |
WBP2 (Homo sapiens - human) |
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Wbp2 (Mus musculus - house mouse) |
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Wbp2 (Rattus norvegicus - Norway rat) |
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Wbp2 (Chinchilla lanigera - long-tailed chinchilla) |
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WBP2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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WBP2 (Canis lupus familiaris - dog) |
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Wbp2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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WBP2 (Sus scrofa - pig) |
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WBP2 (Chlorocebus sabaeus - green monkey) |
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Wbp2 (Heterocephalus glaber - naked mole-rat) |
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Variants in WBP2
82 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 | copy number gain | See cases [RCV000052486] | Chr17:69209079..83086677 [GRCh38] Chr17:67205220..81044553 [GRCh37] Chr17:64716815..78637842 [NCBI36] Chr17:17q24.3-25.3 |
pathogenic |
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] | Chr17:36449220..83086677 [GRCh38] Chr17:58617905..81044553 [GRCh37] Chr17:55972687..78637842 [NCBI36] Chr17:17q23.2-25.3 |
pathogenic |
GRCh38/hg38 17q25.1(chr17:75636351-75970744)x1 | copy number loss | See cases [RCV000053453] | Chr17:75636351..75970744 [GRCh38] Chr17:73632431..73966825 [GRCh37] Chr17:71144026..71478420 [NCBI36] Chr17:17q25.1 |
pathogenic |
NM_199242.2(UNC13D):c.475G>A (p.Ala159Thr) | single nucleotide variant | Malignant melanoma [RCV000071670] | Chr17:75842527 [GRCh38] Chr17:73838608 [GRCh37] Chr17:71350203 [NCBI36] Chr17:17q25.1 |
not provided |
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 | copy number gain | See cases [RCV000143342] | Chr17:69916435..83102552 [GRCh38] Chr17:67912576..81048189 [GRCh37] Chr17:65424171..78653717 [NCBI36] Chr17:17q24.3-25.3 |
pathogenic |
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 | copy number gain | See cases [RCV000447577] | Chr17:64241326..81041938 [GRCh37] Chr17:17q24.2-25.3 |
pathogenic |
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 | copy number gain | See cases [RCV000447823] | Chr17:42580684..81085615 [GRCh37] Chr17:17q21.31-25.3 |
pathogenic |
NM_012478.4(WBP2):c.478G>A (p.Ala160Thr) | single nucleotide variant | Hearing loss, autosomal recessive 107 [RCV000499621] | Chr17:75847850 [GRCh38] Chr17:73843931 [GRCh37] Chr17:17q25.1 |
pathogenic |
NM_012478.4(WBP2):c.671C>T (p.Ala224Val) | single nucleotide variant | Hearing loss, autosomal recessive 107 [RCV000501384] | Chr17:75846969 [GRCh38] Chr17:73843050 [GRCh37] Chr17:17q25.1 |
pathogenic |
NM_012478.4(WBP2):c.487A>C (p.Met163Leu) | single nucleotide variant | Hearing loss, autosomal recessive 107 [RCV000503796] | Chr17:75847841 [GRCh38] Chr17:73843922 [GRCh37] Chr17:17q25.1 |
pathogenic |
GRCh37/hg19 17q25.1(chr17:73757329-73992584)x3 | copy number gain | See cases [RCV000511796] | Chr17:73757329..73992584 [GRCh37] Chr17:17q25.1 |
uncertain significance |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) | copy number gain | See cases [RCV000511439] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_012478.4(WBP2):c.607C>T (p.Pro203Ser) | single nucleotide variant | Inborn genetic diseases [RCV003259515] | Chr17:75847535 [GRCh38] Chr17:73843616 [GRCh37] Chr17:17q25.1 |
uncertain significance |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 | copy number gain | See cases [RCV000512441] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 | copy number gain | See cases [RCV000512573] | Chr17:67002415..81041938 [GRCh37] Chr17:17q24.2-25.3 |
pathogenic |
GRCh37/hg19 17q25.1(chr17:73414856-74037715)x3 | copy number gain | not provided [RCV000683962] | Chr17:73414856..74037715 [GRCh37] Chr17:17q25.1 |
uncertain significance |
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 | copy number gain | not provided [RCV000683952] | Chr17:63689671..81041938 [GRCh37] Chr17:17q24.1-25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 | copy number gain | not provided [RCV000739324] | Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 | copy number gain | not provided [RCV000739320] | Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 | copy number gain | not provided [RCV000739325] | Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_012478.4(WBP2):c.594G>A (p.Pro198=) | single nucleotide variant | not provided [RCV000961521] | Chr17:75847548 [GRCh38] Chr17:73843629 [GRCh37] Chr17:17q25.1 |
benign |
NM_012478.4(WBP2):c.161C>G (p.Pro54Arg) | single nucleotide variant | Hearing loss, autosomal recessive 107 [RCV001580612] | Chr17:75851575 [GRCh38] Chr17:73847656 [GRCh37] Chr17:17q25.1 |
likely pathogenic |
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3 | copy number gain | not provided [RCV000762750] | Chr17:64159738..74891024 [GRCh37] Chr17:17q24.1-25.2 |
likely pathogenic |
NM_012478.4(WBP2):c.533-6G>A | single nucleotide variant | WBP2-related condition [RCV003916082]|not provided [RCV000962553] | Chr17:75847615 [GRCh38] Chr17:73843696 [GRCh37] Chr17:17q25.1 |
benign |
GRCh37/hg19 17q25.1(chr17:73596063-73959466)x3 | copy number gain | not provided [RCV000848371] | Chr17:73596063..73959466 [GRCh37] Chr17:17q25.1 |
uncertain significance |
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 | copy number gain | not provided [RCV000849900] | Chr17:62778720..81041938 [GRCh37] Chr17:17q24.1-25.3 |
pathogenic |
NM_012478.4(WBP2):c.88C>T (p.Leu30Phe) | single nucleotide variant | Inborn genetic diseases [RCV003249916]|not provided [RCV003779932] | Chr17:75851648 [GRCh38] Chr17:73847729 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_012478.4(WBP2):c.60-41C>T | single nucleotide variant | not provided [RCV001598376] | Chr17:75851717 [GRCh38] Chr17:73847798 [GRCh37] Chr17:17q25.1 |
benign |
NM_012478.4(WBP2):c.60-123G>A | single nucleotide variant | not provided [RCV001721671] | Chr17:75851799 [GRCh38] Chr17:73847880 [GRCh37] Chr17:17q25.1 |
benign |
NM_012478.4(WBP2):c.305-5T>C | single nucleotide variant | Hearing loss, autosomal recessive 107 [RCV002243389]|not provided [RCV001676100] | Chr17:75848667 [GRCh38] Chr17:73844748 [GRCh37] Chr17:17q25.1 |
benign |
NM_012478.4(WBP2):c.681C>T (p.Ala227=) | single nucleotide variant | not provided [RCV001643987] | Chr17:75846959 [GRCh38] Chr17:73843040 [GRCh37] Chr17:17q25.1 |
benign |
NM_012478.4(WBP2):c.733-24G>A | single nucleotide variant | not provided [RCV001639939] | Chr17:75846811 [GRCh38] Chr17:73842892 [GRCh37] Chr17:17q25.1 |
benign |
NM_012478.4(WBP2):c.60-42C>T | single nucleotide variant | Hearing loss, autosomal recessive 107 [RCV002243334]|not provided [RCV001620542] | Chr17:75851718 [GRCh38] Chr17:73847799 [GRCh37] Chr17:17q25.1 |
benign |
GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3 | copy number gain | not provided [RCV001006919] | Chr17:73261871..78608763 [GRCh37] Chr17:17q25.1-25.3 |
pathogenic |
NM_012478.4(WBP2):c.656-117T>C | single nucleotide variant | not provided [RCV001615459] | Chr17:75847101 [GRCh38] Chr17:73843182 [GRCh37] Chr17:17q25.1 |
benign |
NM_012478.4(WBP2):c.168+36T>C | single nucleotide variant | Hearing loss, autosomal recessive 107 [RCV002243404]|not provided [RCV001679962] | Chr17:75851532 [GRCh38] Chr17:73847613 [GRCh37] Chr17:17q25.1 |
benign |
NM_012478.4(WBP2):c.533-77C>T | single nucleotide variant | not provided [RCV001708656] | Chr17:75847686 [GRCh38] Chr17:73843767 [GRCh37] Chr17:17q25.1 |
benign |
NM_012478.4(WBP2):c.751C>A (p.Pro251Thr) | single nucleotide variant | not provided [RCV001964501] | Chr17:75846769 [GRCh38] Chr17:73842850 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_012478.4(WBP2):c.466C>G (p.Pro156Ala) | single nucleotide variant | Hearing loss, autosomal recessive 107 [RCV001328673]|Inborn genetic diseases [RCV002546270] | Chr17:75847862 [GRCh38] Chr17:73843943 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_012478.4(WBP2):c.59+207G>T | single nucleotide variant | not provided [RCV001678899] | Chr17:75855032 [GRCh38] Chr17:73851113 [GRCh37] Chr17:17q25.1 |
benign |
NM_012478.4(WBP2):c.682G>A (p.Ala228Thr) | single nucleotide variant | not provided [RCV001913833] | Chr17:75846958 [GRCh38] Chr17:73843039 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_012478.4(WBP2):c.346G>A (p.Ala116Thr) | single nucleotide variant | Inborn genetic diseases [RCV002554363]|not provided [RCV001913032] | Chr17:75848621 [GRCh38] Chr17:73844702 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_012478.4(WBP2):c.593C>T (p.Pro198Leu) | single nucleotide variant | not provided [RCV001955975] | Chr17:75847549 [GRCh38] Chr17:73843630 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_012478.4(WBP2):c.634G>A (p.Asp212Asn) | single nucleotide variant | not provided [RCV001925210] | Chr17:75847508 [GRCh38] Chr17:73843589 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_012478.4(WBP2):c.74A>T (p.Tyr25Phe) | single nucleotide variant | not provided [RCV001880746] | Chr17:75851662 [GRCh38] Chr17:73847743 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_012478.4(WBP2):c.172A>G (p.Ile58Val) | single nucleotide variant | not provided [RCV001867841] | Chr17:75849736 [GRCh38] Chr17:73845817 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_012478.4(WBP2):c.602C>T (p.Pro201Leu) | single nucleotide variant | not provided [RCV001917575] | Chr17:75847540 [GRCh38] Chr17:73843621 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_012478.4(WBP2):c.74A>G (p.Tyr25Cys) | single nucleotide variant | not provided [RCV001938730] | Chr17:75851662 [GRCh38] Chr17:73847743 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_012478.4(WBP2):c.508T>C (p.Tyr170His) | single nucleotide variant | not provided [RCV002109751] | Chr17:75847820 [GRCh38] Chr17:73843901 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.656-18G>T | single nucleotide variant | not provided [RCV002207195] | Chr17:75847002 [GRCh38] Chr17:73843083 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.765G>A (p.Pro255=) | single nucleotide variant | not provided [RCV002168374] | Chr17:75846755 [GRCh38] Chr17:73842836 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.655+20G>A | single nucleotide variant | not provided [RCV002125355] | Chr17:75847467 [GRCh38] Chr17:73843548 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.733-13C>T | single nucleotide variant | not provided [RCV002110541] | Chr17:75846800 [GRCh38] Chr17:73842881 [GRCh37] Chr17:17q25.1 |
benign |
NM_012478.4(WBP2):c.169-20C>T | single nucleotide variant | not provided [RCV002127770] | Chr17:75849759 [GRCh38] Chr17:73845840 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.450C>T (p.Ser150=) | single nucleotide variant | not provided [RCV002113040] | Chr17:75847878 [GRCh38] Chr17:73843959 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.168+19C>A | single nucleotide variant | not provided [RCV002114472] | Chr17:75851549 [GRCh38] Chr17:73847630 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.374G>A (p.Arg125Gln) | single nucleotide variant | not provided [RCV002096063] | Chr17:75848593 [GRCh38] Chr17:73844674 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.655+11T>C | single nucleotide variant | not provided [RCV002151911] | Chr17:75847476 [GRCh38] Chr17:73843557 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.305-8C>A | single nucleotide variant | WBP2-related condition [RCV003903344]|not provided [RCV002119397] | Chr17:75848670 [GRCh38] Chr17:73844751 [GRCh37] Chr17:17q25.1 |
benign |
NM_012478.4(WBP2):c.397+13C>T | single nucleotide variant | not provided [RCV002218957] | Chr17:75848557 [GRCh38] Chr17:73844638 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.627C>T (p.Ser209=) | single nucleotide variant | not provided [RCV002144365] | Chr17:75847515 [GRCh38] Chr17:73843596 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.477C>T (p.Val159=) | single nucleotide variant | not provided [RCV002135344] | Chr17:75847851 [GRCh38] Chr17:73843932 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.723C>T (p.Tyr241=) | single nucleotide variant | not provided [RCV002124165] | Chr17:75846917 [GRCh38] Chr17:73842998 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.533-14C>G | single nucleotide variant | not provided [RCV002183859] | Chr17:75847623 [GRCh38] Chr17:73843704 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.60-5C>G | single nucleotide variant | not provided [RCV002218324] | Chr17:75851681 [GRCh38] Chr17:73847762 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.276C>T (p.Ile92=) | single nucleotide variant | not provided [RCV002135820] | Chr17:75849632 [GRCh38] Chr17:73845713 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.533-7C>T | single nucleotide variant | WBP2-related condition [RCV003933458]|not provided [RCV002117790] | Chr17:75847616 [GRCh38] Chr17:73843697 [GRCh37] Chr17:17q25.1 |
benign|likely benign |
NM_012478.4(WBP2):c.740C>T (p.Pro247Leu) | single nucleotide variant | not provided [RCV003115358] | Chr17:75846780 [GRCh38] Chr17:73842861 [GRCh37] Chr17:17q25.1 |
uncertain significance |
GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3 | copy number gain | not provided [RCV002276051] | Chr17:73481509..81043199 [GRCh37] Chr17:17q25.1-25.3 |
pathogenic |
NM_012478.4(WBP2):c.744G>A (p.Pro248=) | single nucleotide variant | not provided [RCV002776042] | Chr17:75846776 [GRCh38] Chr17:73842857 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.108G>A (p.Lys36=) | single nucleotide variant | WBP2-related condition [RCV003936561]|not provided [RCV003097556] | Chr17:75851628 [GRCh38] Chr17:73847709 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.565G>C (p.Ala189Pro) | single nucleotide variant | Inborn genetic diseases [RCV002868560] | Chr17:75847577 [GRCh38] Chr17:73843658 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_012478.4(WBP2):c.733-17C>T | single nucleotide variant | not provided [RCV002889799] | Chr17:75846804 [GRCh38] Chr17:73842885 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.731C>T (p.Thr244Met) | single nucleotide variant | not provided [RCV002823803] | Chr17:75846909 [GRCh38] Chr17:73842990 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_012478.4(WBP2):c.397+14G>A | single nucleotide variant | not provided [RCV002575719] | Chr17:75848556 [GRCh38] Chr17:73844637 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.518C>A (p.Pro173Gln) | single nucleotide variant | Inborn genetic diseases [RCV002709967]|not provided [RCV003730384] | Chr17:75847810 [GRCh38] Chr17:73843891 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_012478.4(WBP2):c.47A>G (p.Asn16Ser) | single nucleotide variant | Inborn genetic diseases [RCV002787197] | Chr17:75855251 [GRCh38] Chr17:73851332 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_012478.4(WBP2):c.19C>T (p.His7Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002933026]|not provided [RCV002933025] | Chr17:75855279 [GRCh38] Chr17:73851360 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_012478.4(WBP2):c.297A>C (p.Glu99Asp) | single nucleotide variant | Inborn genetic diseases [RCV002850124] | Chr17:75849611 [GRCh38] Chr17:73845692 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_012478.4(WBP2):c.345G>A (p.Thr115=) | single nucleotide variant | not provided [RCV002623752] | Chr17:75848622 [GRCh38] Chr17:73844703 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.597C>T (p.Pro199=) | single nucleotide variant | not provided [RCV002921912] | Chr17:75847545 [GRCh38] Chr17:73843626 [GRCh37] Chr17:17q25.1 |
benign |
NM_012478.4(WBP2):c.561C>T (p.Asp187=) | single nucleotide variant | not provided [RCV002650839] | Chr17:75847581 [GRCh38] Chr17:73843662 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.398-4G>A | single nucleotide variant | not provided [RCV003087588] | Chr17:75847934 [GRCh38] Chr17:73844015 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.136A>G (p.Lys46Glu) | single nucleotide variant | not provided [RCV002581060] | Chr17:75851600 [GRCh38] Chr17:73847681 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_012478.4(WBP2):c.77A>G (p.Asp26Gly) | single nucleotide variant | Inborn genetic diseases [RCV002944408] | Chr17:75851659 [GRCh38] Chr17:73847740 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_012478.4(WBP2):c.344C>T (p.Thr115Met) | single nucleotide variant | not provided [RCV002587230] | Chr17:75848623 [GRCh38] Chr17:73844704 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_012478.4(WBP2):c.98A>G (p.Asn33Ser) | single nucleotide variant | Inborn genetic diseases [RCV003189795] | Chr17:75851638 [GRCh38] Chr17:73847719 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.587C>T (p.Pro196Leu) | single nucleotide variant | Inborn genetic diseases [RCV003203680] | Chr17:75847555 [GRCh38] Chr17:73843636 [GRCh37] Chr17:17q25.1 |
uncertain significance |
GRCh37/hg19 17q25.1(chr17:72718277-74142256) | copy number gain | 7q11.23 microduplication syndrome [RCV003325440] | Chr17:72718277..74142256 [GRCh37] Chr17:17q25.1 |
pathogenic |
GRCh37/hg19 17q25.1(chr17:73264158-74039659)x3 | copy number gain | not provided [RCV003485164] | Chr17:73264158..74039659 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_012478.4(WBP2):c.558G>A (p.Met186Ile) | single nucleotide variant | not provided [RCV003689645] | Chr17:75847584 [GRCh38] Chr17:73843665 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_012478.4(WBP2):c.525C>T (p.Pro175=) | single nucleotide variant | not provided [RCV003877534] | Chr17:75847803 [GRCh38] Chr17:73843884 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.381C>T (p.Leu127=) | single nucleotide variant | not provided [RCV003665749] | Chr17:75848586 [GRCh38] Chr17:73844667 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.398-12T>C | single nucleotide variant | not provided [RCV003820669] | Chr17:75847942 [GRCh38] Chr17:73844023 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.305-20C>T | single nucleotide variant | not provided [RCV003563864] | Chr17:75848682 [GRCh38] Chr17:73844763 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.407G>A (p.Gly136Asp) | single nucleotide variant | not provided [RCV003843373] | Chr17:75847921 [GRCh38] Chr17:73844002 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_012478.4(WBP2):c.398-3T>G | single nucleotide variant | not provided [RCV003843852] | Chr17:75847933 [GRCh38] Chr17:73844014 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_012478.4(WBP2):c.71C>T (p.Ser24Phe) | single nucleotide variant | not provided [RCV003733040] | Chr17:75851665 [GRCh38] Chr17:73847746 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_012478.4(WBP2):c.305-19A>G | single nucleotide variant | not provided [RCV003822026] | Chr17:75848681 [GRCh38] Chr17:73844762 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.614A>G (p.Glu205Gly) | single nucleotide variant | not provided [RCV003566032] | Chr17:75847528 [GRCh38] Chr17:73843609 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_012478.4(WBP2):c.717C>T (p.Asn239=) | single nucleotide variant | not provided [RCV003872277] | Chr17:75846923 [GRCh38] Chr17:73843004 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.168+18G>A | single nucleotide variant | not provided [RCV003823916] | Chr17:75851550 [GRCh38] Chr17:73847631 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_012478.4(WBP2):c.304+6T>A | single nucleotide variant | not provided [RCV003732864] | Chr17:75849598 [GRCh38] Chr17:73845679 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_012478.4(WBP2):c.656-9C>T | single nucleotide variant | WBP2-related condition [RCV003944245] | Chr17:75846993 [GRCh38] Chr17:73843074 [GRCh37] Chr17:17q25.1 |
likely benign |
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. |
G42954 |
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WBP2_9370 |
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D8S2279 |
|
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 | 2438 | 2978 | 1721 | 624 | 1939 | 465 | 4356 | 2188 | 3733 | 418 | 1459 | 1613 | 175 | 1 | 1204 | 2787 | 5 | 2 |
Low | 1 | 13 | 5 | 12 | 1 | 9 | 1 | 1 | 1 | 1 | 1 | |||||||
Below cutoff |
RefSeq Transcripts | NM_001330499 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001348170 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_012478 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047435712 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315634 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC087289 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF087866 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK057881 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK094458 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK128407 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK293214 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK294082 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK294155 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK300875 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL049981 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC007452 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC010616 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471099 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068261 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA278794 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DC327517 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ570783 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HF548137 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000254806 ⟹ ENSP00000254806 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000416574 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000433525 ⟹ ENSP00000415251 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000585462 ⟹ ENSP00000467583 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000586257 ⟹ ENSP00000464782 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000587374 ⟹ ENSP00000464820 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000587642 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000588373 ⟹ ENSP00000465052 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000589236 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000589241 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000589642 ⟹ ENSP00000468793 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000589834 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000590221 ⟹ ENSP00000466450 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000590450 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000591399 ⟹ ENSP00000467579 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000591831 ⟹ ENSP00000466999 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000592802 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000593002 ⟹ ENSP00000464768 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000626827 ⟹ ENSP00000486675 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001330499 ⟹ NP_001317428 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001348170 ⟹ NP_001335099 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_012478 ⟹ NP_036610 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047435712 ⟹ XP_047291668 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054315634 ⟹ XP_054171609 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001317428 | (Get FASTA) | NCBI Sequence Viewer |
NP_001335099 | (Get FASTA) | NCBI Sequence Viewer | |
NP_036610 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047291668 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171609 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH07452 | (Get FASTA) | NCBI Sequence Viewer |
AAH10616 | (Get FASTA) | NCBI Sequence Viewer | |
AAP97175 | (Get FASTA) | NCBI Sequence Viewer | |
BAG56753 | (Get FASTA) | NCBI Sequence Viewer | |
BAG57423 | (Get FASTA) | NCBI Sequence Viewer | |
BAG57479 | (Get FASTA) | NCBI Sequence Viewer | |
BAG62519 | (Get FASTA) | NCBI Sequence Viewer | |
CAH56417 | (Get FASTA) | NCBI Sequence Viewer | |
CCO13848 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89325 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89326 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89327 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89328 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89329 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000254806 | ||
ENSP00000254806.3 | |||
ENSP00000415251 | |||
ENSP00000415251.2 | |||
ENSP00000464768.1 | |||
ENSP00000464782.1 | |||
ENSP00000464820.1 | |||
ENSP00000465052.1 | |||
ENSP00000466450.1 | |||
ENSP00000466999.1 | |||
ENSP00000467579 | |||
ENSP00000467579.1 | |||
ENSP00000467583 | |||
ENSP00000467583.1 | |||
ENSP00000468793.1 | |||
ENSP00000486675.1 | |||
GenBank Protein | Q969T9 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_036610 ⟸ NM_012478 |
- Peptide Label: | isoform 1 |
- UniProtKB: | B4DFG2 (UniProtKB/Swiss-Prot), O95638 (UniProtKB/Swiss-Prot), Q969T9 (UniProtKB/Swiss-Prot), Q7Z511 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001335099 ⟸ NM_001348170 |
- Peptide Label: | isoform 1 |
- UniProtKB: | B4DFG2 (UniProtKB/Swiss-Prot), O95638 (UniProtKB/Swiss-Prot), Q969T9 (UniProtKB/Swiss-Prot), Q7Z511 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001317428 ⟸ NM_001330499 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q7Z511 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000254806 ⟸ ENST00000254806 |
RefSeq Acc Id: | ENSP00000467583 ⟸ ENST00000585462 |
RefSeq Acc Id: | ENSP00000464782 ⟸ ENST00000586257 |
RefSeq Acc Id: | ENSP00000486675 ⟸ ENST00000626827 |
RefSeq Acc Id: | ENSP00000464820 ⟸ ENST00000587374 |
RefSeq Acc Id: | ENSP00000465052 ⟸ ENST00000588373 |
RefSeq Acc Id: | ENSP00000468793 ⟸ ENST00000589642 |
RefSeq Acc Id: | ENSP00000466450 ⟸ ENST00000590221 |
RefSeq Acc Id: | ENSP00000415251 ⟸ ENST00000433525 |
RefSeq Acc Id: | ENSP00000467579 ⟸ ENST00000591399 |
RefSeq Acc Id: | ENSP00000466999 ⟸ ENST00000591831 |
RefSeq Acc Id: | ENSP00000464768 ⟸ ENST00000593002 |
RefSeq Acc Id: | XP_047291668 ⟸ XM_047435712 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B4DDJ2 (UniProtKB/TrEMBL), A6NG10 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054171609 ⟸ XM_054315634 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B4DDJ2 (UniProtKB/TrEMBL), A6NG10 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q969T9-F1-model_v2 | AlphaFold | Q969T9 | 1-261 | view protein structure |
RGD ID: | 6794747 | ||||||||
Promoter ID: | HG_KWN:27130 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | NM_012478, UC002JPR.1, UC002JPT.1, UC002JPU.1 | ||||||||
Position: |
|
RGD ID: | 7236341 | ||||||||
Promoter ID: | EPDNEW_H23916 | ||||||||
Type: | initiation region | ||||||||
Name: | WBP2_1 | ||||||||
Description: | WW domain binding protein 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:12738 | AgrOrtholog |
COSMIC | WBP2 | COSMIC |
Ensembl Genes | ENSG00000132471 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000254806 | ENTREZGENE |
ENST00000254806.8 | UniProtKB/Swiss-Prot | |
ENST00000433525 | ENTREZGENE | |
ENST00000433525.6 | UniProtKB/Swiss-Prot | |
ENST00000585462 | ENTREZGENE | |
ENST00000585462.5 | UniProtKB/TrEMBL | |
ENST00000586257.5 | UniProtKB/TrEMBL | |
ENST00000587374.5 | UniProtKB/TrEMBL | |
ENST00000588373.5 | UniProtKB/TrEMBL | |
ENST00000589642.5 | UniProtKB/TrEMBL | |
ENST00000590221.5 | UniProtKB/TrEMBL | |
ENST00000591399 | ENTREZGENE | |
ENST00000591399.5 | UniProtKB/Swiss-Prot | |
ENST00000591831.5 | UniProtKB/TrEMBL | |
ENST00000593002.1 | UniProtKB/TrEMBL | |
ENST00000626827.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.30.29.30 | UniProtKB/TrEMBL |
GTEx | ENSG00000132471 | GTEx |
HGNC ID | HGNC:12738 | ENTREZGENE |
Human Proteome Map | WBP2 | Human Proteome Map |
InterPro | GRAM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PH-like_dom_sf | UniProtKB/TrEMBL | |
WBP2-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:23558 | UniProtKB/Swiss-Prot |
NCBI Gene | 23558 | ENTREZGENE |
OMIM | 606962 | OMIM |
PANTHER | PTHR31606 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR31606:SF4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | GRAM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA37349 | PharmGKB |
Superfamily-SCOP | PH domain-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A6NG10 | ENTREZGENE, UniProtKB/TrEMBL |
B4DDJ2 | ENTREZGENE | |
B4DFG2 | ENTREZGENE | |
K7EIJ0_HUMAN | UniProtKB/TrEMBL | |
K7EIK1_HUMAN | UniProtKB/TrEMBL | |
K7EIN1_HUMAN | UniProtKB/TrEMBL | |
K7EJ75_HUMAN | UniProtKB/TrEMBL | |
K7EMC9_HUMAN | UniProtKB/TrEMBL | |
K7ENL2_HUMAN | UniProtKB/TrEMBL | |
K7ESN4_HUMAN | UniProtKB/TrEMBL | |
L0R5E7_HUMAN | UniProtKB/TrEMBL | |
O95638 | ENTREZGENE | |
Q7Z511 | ENTREZGENE, UniProtKB/TrEMBL | |
Q969T9 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | B4DDJ2 | UniProtKB/TrEMBL |
B4DFG2 | UniProtKB/Swiss-Prot | |
O95638 | UniProtKB/Swiss-Prot |