BUB1B-PAK6 (BUB1B-PAK6 readthrough) - Rat Genome Database

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Gene: BUB1B-PAK6 (BUB1B-PAK6 readthrough) Homo sapiens
Analyze
No known orthologs.
Symbol: BUB1B-PAK6 (Ensembl: PAK6)
Name: BUB1B-PAK6 readthrough (Ensembl:p21 (RAC1) activated kinase 6)
RGD ID: 12738319
HGNC Page HGNC:52276
Description: Enables cadherin binding activity. Predicted to be involved in intracellular signal transduction and regulation of MAPK cascade. Located in cell junction; fibrillar center; and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: p21-activated kinase 6; PAK-5; PAK-6; PAK5; PAK6; serine/threonine-protein kinase PAK 6
RGD Orthologs
Alliance Orthologs
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381540,217,428 - 40,277,487 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1540,218,500 - 40,264,890 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p14 Ensembl1540,217,428 - 40,277,487 (+)EnsemblGRCh38hg38GRCh38
GRCh371540,509,629 - 40,569,688 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map15q15.1NCBI
CHM1_11540,629,582 - 40,689,654 (+)NCBICHM1_1
T2T-CHM13v2.01538,024,313 - 38,084,404 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References
Additional References at PubMed
PMID:11278661   PMID:11773441   PMID:14573606   PMID:15550393   PMID:18465753   PMID:20070256   PMID:20817787   PMID:22339630   PMID:23132866   PMID:23251661  


Genomics

Variants

.
Variants in BUB1B-PAK6
288 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001211.6(BUB1B):c.2851-1G>C single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV003507310]|not provided [RCV000722570] Chr15:40218455 [GRCh38]
Chr15:40510656 [GRCh37]
Chr15:15q15.1		 likely pathogenic|uncertain significance
GRCh38/hg38 15q14-15.1(chr15:36531993-40787538)x3 copy number gain See cases [RCV000052341] Chr15:36531993..40787538 [GRCh38]
Chr15:36824194..41079736 [GRCh37]
Chr15:34611486..38867028 [NCBI36]
Chr15:15q14-15.1		 pathogenic
NM_001211.6(BUB1B):c.2763G>C (p.Gln921His) single nucleotide variant Inborn genetic diseases [RCV004018580]|Mosaic variegated aneuploidy syndrome 1 [RCV000007156]|Premature chromatid separation trait [RCV000007157]|not provided [RCV001552489] Chr15:40217580 [GRCh38]
Chr15:40509781 [GRCh37]
Chr15:15q15.1		 pathogenic|affects|conflicting interpretations of pathogenicity|uncertain significance
NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV000007162]|Mosaic variegated aneuploidy syndrome 1 [RCV002482838]|Premature chromatid separation trait [RCV000007163]|not specified [RCV002509147] Chr15:40220641 [GRCh38]
Chr15:40512842 [GRCh37]
Chr15:15q15.1		 pathogenic|affects|uncertain significance
NM_001211.6(BUB1B):c.2856C>T (p.Asp952=) single nucleotide variant Colorectal cancer [RCV003316161]|Mosaic variegated aneuploidy syndrome 1 [RCV000210533]|not provided [RCV001640328]|not specified [RCV000246993] Chr15:40218461 [GRCh38]
Chr15:40510662 [GRCh37]
Chr15:15q15.1		 benign
NM_001211.6(BUB1B):c.2729T>A (p.Val910Glu) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV000230606] Chr15:40217546 [GRCh38]
Chr15:40509747 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3011A>G (p.Asn1004Ser) single nucleotide variant Colorectal cancer [RCV003315740]|Inborn genetic diseases [RCV002515824]|Mosaic variegated aneuploidy syndrome 1 [RCV000457975]|not provided [RCV001560420]|not specified [RCV000120423] Chr15:40220617 [GRCh38]
Chr15:40512818 [GRCh37]
Chr15:15q15.1		 benign|likely benign|not provided
NM_001211.6(BUB1B):c.2784C>T (p.Ser928=) single nucleotide variant Inborn genetic diseases [RCV002438375]|Mosaic variegated aneuploidy syndrome 1 [RCV000555231] Chr15:40217601 [GRCh38]
Chr15:40509802 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.3099A>G (p.Lys1033=) single nucleotide variant Colorectal cancer [RCV003316389]|Mosaic variegated aneuploidy syndrome 1 [RCV000471759]|not provided [RCV001689822]|not specified [RCV000251949] Chr15:40220705 [GRCh38]
Chr15:40512906 [GRCh37]
Chr15:15q15.1		 benign
GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1 copy number loss See cases [RCV000051617] Chr15:32635803..40233825 [GRCh38]
Chr15:32928004..40526026 [GRCh37]
Chr15:30715296..38313318 [NCBI36]
Chr15:15q13.3-15.1		 pathogenic
GRCh38/hg38 15q14-15.1(chr15:39710935-40294591)x3 copy number gain See cases [RCV000052105] Chr15:39710935..40294591 [GRCh38]
Chr15:40003136..40586792 [GRCh37]
Chr15:37790428..38374084 [NCBI36]
Chr15:15q14-15.1		 uncertain significance
NM_001211.6(BUB1B):c.2785G>A (p.Gly929Ser) single nucleotide variant Inborn genetic diseases [RCV002436374]|Microcephaly [RCV001252831]|Mosaic variegated aneuploidy syndrome 1 [RCV000463687]|not provided [RCV000733229] Chr15:40217602 [GRCh38]
Chr15:40509803 [GRCh37]
Chr15:15q15.1		 likely benign|uncertain significance
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His) single nucleotide variant BUB1B-related disorder [RCV004754434]|Mosaic variegated aneuploidy syndrome 1 [RCV001294084]|not provided [RCV001357136] Chr15:40220700 [GRCh38]
Chr15:40512901 [GRCh37]
Chr15:15q15.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001211.6(BUB1B):c.2866A>G (p.Ile956Val) single nucleotide variant Inborn genetic diseases [RCV002436375]|Mosaic variegated aneuploidy syndrome 1 [RCV002230309] Chr15:40218471 [GRCh38]
Chr15:40510672 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2801A>G (p.Gln934Arg) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV000465135] Chr15:40217618 [GRCh38]
Chr15:40509819 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2979G>T (p.Trp993Cys) single nucleotide variant Inborn genetic diseases [RCV004601171]|Mosaic variegated aneuploidy syndrome 1 [RCV000466079] Chr15:40220585 [GRCh38]
Chr15:40512786 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.625C>G (p.Pro209Ala) single nucleotide variant not specified [RCV004298070] Chr15:40266262 [GRCh38]
Chr15:40558463 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.566C>T (p.Ser189Leu) single nucleotide variant not specified [RCV004318023] Chr15:40266203 [GRCh38]
Chr15:40558404 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3144C>G (p.Leu1048=) single nucleotide variant Inborn genetic diseases [RCV003288471] Chr15:40220750 [GRCh38]
Chr15:40512951 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2912T>C (p.Val971Ala) single nucleotide variant Inborn genetic diseases [RCV003301878] Chr15:40218517 [GRCh38]
Chr15:40510718 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3056T>C (p.Met1019Thr) single nucleotide variant Inborn genetic diseases [RCV003301903] Chr15:40220662 [GRCh38]
Chr15:40512863 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2933G>A (p.Trp978Ter) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV000641233] Chr15:40218538 [GRCh38]
Chr15:40510739 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2996G>A (p.Arg999Gln) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV000533586] Chr15:40220602 [GRCh38]
Chr15:40512803 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.520G>A (p.Ala174Thr) single nucleotide variant not specified [RCV004313719] Chr15:40266157 [GRCh38]
Chr15:40558358 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.1855C>A (p.Pro619Thr) single nucleotide variant Keratoconus [RCV000678673] Chr15:40274253 [GRCh38]
Chr15:40566454 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2752C>T (p.Leu918Phe) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV002233167] Chr15:40217569 [GRCh38]
Chr15:40509770 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3067T>G (p.Phe1023Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV002233681] Chr15:40220673 [GRCh38]
Chr15:40512874 [GRCh37]
Chr15:15q15.1		 uncertain significance
NC_000015.9:g.(?_40453416)_(40512966_?)dup duplication Mosaic variegated aneuploidy syndrome [RCV000708012] Chr15:40161215..40220765 [GRCh38]
Chr15:40453416..40512966 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2762A>T (p.Gln921Leu) single nucleotide variant Inborn genetic diseases [RCV002440543]|Mosaic variegated aneuploidy syndrome 1 [RCV002233433] Chr15:40217579 [GRCh38]
Chr15:40509780 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3055A>G (p.Met1019Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV002233407] Chr15:40220661 [GRCh38]
Chr15:40512862 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.*111A>G single nucleotide variant not provided [RCV001540281] Chr15:40220870 [GRCh38]
Chr15:40513071 [GRCh37]
Chr15:15q15.1		 benign
NM_001211.6(BUB1B):c.2850+188T>C single nucleotide variant not provided [RCV001709471] Chr15:40217855 [GRCh38]
Chr15:40510056 [GRCh37]
Chr15:15q15.1		 benign
NM_001211.6(BUB1B):c.2851-341A>T single nucleotide variant not provided [RCV001550571] Chr15:40218115 [GRCh38]
Chr15:40510316 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2889A>G (p.Leu963=) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV000876648] Chr15:40218494 [GRCh38]
Chr15:40510695 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.3147T>C (p.Phe1049=) single nucleotide variant Inborn genetic diseases [RCV002319987]|Mosaic variegated aneuploidy syndrome 1 [RCV000867940] Chr15:40220753 [GRCh38]
Chr15:40512954 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001395430.1(PAK6):c.622C>A (p.Pro208Thr) single nucleotide variant not provided [RCV000948425] Chr15:40266259 [GRCh38]
Chr15:40558460 [GRCh37]
Chr15:15q15.1		 benign
NM_001395430.1(PAK6):c.572G>A (p.Arg191His) single nucleotide variant not provided [RCV000964146] Chr15:40266209 [GRCh38]
Chr15:40558410 [GRCh37]
Chr15:15q15.1		 benign
NM_001211.6(BUB1B):c.2958-10A>G single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV001409449]|not provided [RCV004705840] Chr15:40220554 [GRCh38]
Chr15:40512755 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001395430.1(PAK6):c.569A>G (p.Gln190Arg) single nucleotide variant not provided [RCV000971621] Chr15:40266206 [GRCh38]
Chr15:40558407 [GRCh37]
Chr15:15q15.1		 benign
NM_001395430.1(PAK6):c.593G>A (p.Cys198Tyr) single nucleotide variant not provided [RCV000971622] Chr15:40266230 [GRCh38]
Chr15:40558431 [GRCh37]
Chr15:15q15.1		 benign
NM_001395430.1(PAK6):c.1606C>T (p.Leu536Phe) single nucleotide variant not specified [RCV004292591] Chr15:40273461 [GRCh38]
Chr15:40565662 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2805C>G (p.Ile935Met) single nucleotide variant Inborn genetic diseases [RCV003166291]|Mosaic variegated aneuploidy syndrome 1 [RCV002234785] Chr15:40217622 [GRCh38]
Chr15:40509823 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3124A>G (p.Thr1042Ala) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV002234871] Chr15:40220730 [GRCh38]
Chr15:40512931 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2901A>T (p.Glu967Asp) single nucleotide variant Inborn genetic diseases [RCV002433989]|Mosaic variegated aneuploidy syndrome 1 [RCV002235079] Chr15:40218506 [GRCh38]
Chr15:40510707 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2792G>A (p.Arg931Gln) single nucleotide variant Inborn genetic diseases [RCV002433979]|Mosaic variegated aneuploidy syndrome 1 [RCV002235057]|not provided [RCV003238237] Chr15:40217609 [GRCh38]
Chr15:40509810 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.5(BUB1B):c.2971G>T (p.Glu991Ter) single nucleotide variant Neoplasm of ovary [RCV000785426] Chr15:40220577 [GRCh38]
Chr15:40512778 [GRCh37]
Chr15:15q15.1		 pathogenic
NM_001211.6(BUB1B):c.3074C>A (p.Thr1025Asn) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV002235786] Chr15:40220680 [GRCh38]
Chr15:40512881 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2957+1G>A single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV002235572] Chr15:40218563 [GRCh38]
Chr15:40510764 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3105A>G (p.Leu1035=) single nucleotide variant Inborn genetic diseases [RCV002320005]|Mosaic variegated aneuploidy syndrome 1 [RCV000869735] Chr15:40220711 [GRCh38]
Chr15:40512912 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2783G>C (p.Ser928Thr) single nucleotide variant Inborn genetic diseases [RCV002436924]|Mosaic variegated aneuploidy syndrome 1 [RCV001236513] Chr15:40217600 [GRCh38]
Chr15:40509801 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.1868A>G (p.Asn623Ser) single nucleotide variant not specified [RCV004300789] Chr15:40274266 [GRCh38]
Chr15:40566467 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2799A>G (p.Val933=) single nucleotide variant Inborn genetic diseases [RCV002434283]|Mosaic variegated aneuploidy syndrome 1 [RCV001480527] Chr15:40217616 [GRCh38]
Chr15:40509817 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.3022A>G (p.Thr1008Ala) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV002241293]|Mosaic variegated aneuploidy syndrome 1 [RCV002504282] Chr15:40220628 [GRCh38]
Chr15:40512829 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2850+108A>G single nucleotide variant not provided [RCV001547387] Chr15:40217775 [GRCh38]
Chr15:40509976 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2958-134A>G single nucleotide variant not provided [RCV001530724] Chr15:40220430 [GRCh38]
Chr15:40512631 [GRCh37]
Chr15:15q15.1		 likely benign
NM_020168.5(PAK6):c.-21822delG deletion not provided [RCV001008480] Chr15:40218474 [GRCh38]
Chr15:40510675 [GRCh37]
Chr15:15q15.1		 likely pathogenic
NM_001211.6(BUB1B):c.2851-131A>G single nucleotide variant not provided [RCV001692614] Chr15:40218325 [GRCh38]
Chr15:40510526 [GRCh37]
Chr15:15q15.1		 benign
NM_001211.6(BUB1B):c.3082C>G (p.Gln1028Glu) single nucleotide variant Inborn genetic diseases [RCV002319676]|Mosaic variegated aneuploidy syndrome 1 [RCV002241271] Chr15:40220688 [GRCh38]
Chr15:40512889 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2834G>A (p.Cys945Tyr) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV002239325] Chr15:40217651 [GRCh38]
Chr15:40509852 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2693A>G (p.Tyr898Cys) single nucleotide variant Inborn genetic diseases [RCV002434444]|Mosaic variegated aneuploidy syndrome 1 [RCV002239288] Chr15:40217510 [GRCh38]
Chr15:40509711 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2792G>C (p.Arg931Pro) single nucleotide variant Inborn genetic diseases [RCV004033693]|Mosaic variegated aneuploidy syndrome 1 [RCV002240975] Chr15:40217609 [GRCh38]
Chr15:40509810 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2995C>T (p.Arg999Trp) single nucleotide variant Inborn genetic diseases [RCV003160417]|Mosaic variegated aneuploidy syndrome 1 [RCV002240234] Chr15:40220601 [GRCh38]
Chr15:40512802 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2745T>A (p.Ser915Arg) single nucleotide variant Inborn genetic diseases [RCV002438749]|Mosaic variegated aneuploidy syndrome 1 [RCV002242165] Chr15:40217562 [GRCh38]
Chr15:40509763 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3076A>G (p.Thr1026Ala) single nucleotide variant Inborn genetic diseases [RCV002319702]|Mosaic variegated aneuploidy syndrome 1 [RCV002242206] Chr15:40220682 [GRCh38]
Chr15:40512883 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2777C>T (p.Thr926Ile) single nucleotide variant Inborn genetic diseases [RCV004036037]|Mosaic variegated aneuploidy syndrome 1 [RCV002241696] Chr15:40217594 [GRCh38]
Chr15:40509795 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2810A>G (p.Glu937Gly) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV001360390] Chr15:40217627 [GRCh38]
Chr15:40509828 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2904C>A (p.His968Gln) single nucleotide variant Inborn genetic diseases [RCV002437043]|Mosaic variegated aneuploidy syndrome 1 [RCV002241860] Chr15:40218509 [GRCh38]
Chr15:40510710 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2791C>T (p.Arg931Trp) single nucleotide variant Inborn genetic diseases [RCV002538498]|Mosaic variegated aneuploidy syndrome 1 [RCV002241718]|not provided [RCV002221621] Chr15:40217608 [GRCh38]
Chr15:40509809 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3084A>G (p.Gln1028=) single nucleotide variant Inborn genetic diseases [RCV002319705]|Mosaic variegated aneuploidy syndrome 1 [RCV001371344] Chr15:40220690 [GRCh38]
Chr15:40512891 [GRCh37]
Chr15:15q15.1		 likely benign|uncertain significance
NM_001211.6(BUB1B):c.3020C>G (p.Ala1007Gly) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV002242185] Chr15:40220626 [GRCh38]
Chr15:40512827 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2897A>G (p.Lys966Arg) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV002242141] Chr15:40218502 [GRCh38]
Chr15:40510703 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3113T>C (p.Val1038Ala) single nucleotide variant Inborn genetic diseases [RCV002322341]|Mosaic variegated aneuploidy syndrome 1 [RCV001366474] Chr15:40220719 [GRCh38]
Chr15:40512920 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2962A>G (p.Lys988Glu) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV001368899] Chr15:40220568 [GRCh38]
Chr15:40512769 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3133G>C (p.Gly1045Arg) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV001369931] Chr15:40220739 [GRCh38]
Chr15:40512940 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2760G>C (p.Val920=) single nucleotide variant Inborn genetic diseases [RCV002438903]|Mosaic variegated aneuploidy syndrome 1 [RCV001395272] Chr15:40217577 [GRCh38]
Chr15:40509778 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2857C>T (p.Leu953=) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV001464833] Chr15:40218462 [GRCh38]
Chr15:40510663 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2850+9A>G single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV001468796] Chr15:40217676 [GRCh38]
Chr15:40509877 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2849A>G (p.Gln950Arg) single nucleotide variant Inborn genetic diseases [RCV002439015]|Mosaic variegated aneuploidy syndrome 1 [RCV001434880] Chr15:40217666 [GRCh38]
Chr15:40509867 [GRCh37]
Chr15:15q15.1		 likely benign|uncertain significance
NM_001211.6(BUB1B):c.2994G>A (p.Val998=) single nucleotide variant Inborn genetic diseases [RCV002439028]|Mosaic variegated aneuploidy syndrome 1 [RCV001438914] Chr15:40220600 [GRCh38]
Chr15:40512801 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2851-317A>G single nucleotide variant not provided [RCV001696592] Chr15:40218139 [GRCh38]
Chr15:40510340 [GRCh37]
Chr15:15q15.1		 benign
NM_001211.6(BUB1B):c.2997G>A (p.Arg999=) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV001453298] Chr15:40220603 [GRCh38]
Chr15:40512804 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2752C>G (p.Leu918Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV001868723]|not provided [RCV001753231] Chr15:40217569 [GRCh38]
Chr15:40509770 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2854G>C (p.Asp952His) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV001929810] Chr15:40218459 [GRCh38]
Chr15:40510660 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3074C>T (p.Thr1025Ile) single nucleotide variant Inborn genetic diseases [RCV002319733]|Mosaic variegated aneuploidy syndrome 1 [RCV001895666] Chr15:40220680 [GRCh38]
Chr15:40512881 [GRCh37]
Chr15:15q15.1		 likely benign|uncertain significance
NM_001211.6(BUB1B):c.3028T>C (p.Ser1010Pro) single nucleotide variant Inborn genetic diseases [RCV002441077]|Mosaic variegated aneuploidy syndrome 1 [RCV001946423] Chr15:40220634 [GRCh38]
Chr15:40512835 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2933G>T (p.Trp978Leu) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV001946380] Chr15:40218538 [GRCh38]
Chr15:40510739 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3049G>A (p.Ala1017Thr) single nucleotide variant Inborn genetic diseases [RCV003170084]|Mosaic variegated aneuploidy syndrome 1 [RCV001982361] Chr15:40220655 [GRCh38]
Chr15:40512856 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2807T>C (p.Leu936Pro) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV001876711] Chr15:40217624 [GRCh38]
Chr15:40509825 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3146T>C (p.Phe1049Ser) single nucleotide variant Inborn genetic diseases [RCV002324252]|Mosaic variegated aneuploidy syndrome 1 [RCV001902300] Chr15:40220752 [GRCh38]
Chr15:40512953 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3105A>C (p.Leu1035Phe) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV001870171] Chr15:40220711 [GRCh38]
Chr15:40512912 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2679A>G (p.Arg893=) single nucleotide variant Inborn genetic diseases [RCV004039909]|Mosaic variegated aneuploidy syndrome 1 [RCV001937622] Chr15:40217496 [GRCh38]
Chr15:40509697 [GRCh37]
Chr15:15q15.1		 likely benign|uncertain significance
NM_001211.6(BUB1B):c.2876T>G (p.Leu959Ter) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV001932431] Chr15:40218481 [GRCh38]
Chr15:40510682 [GRCh37]
Chr15:15q15.1		 pathogenic
NM_001211.6(BUB1B):c.2862T>C (p.Phe954=) single nucleotide variant Inborn genetic diseases [RCV004047184]|Mosaic variegated aneuploidy syndrome 1 [RCV002208511] Chr15:40218467 [GRCh38]
Chr15:40510668 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2851-17G>A single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV002146684] Chr15:40218439 [GRCh38]
Chr15:40510640 [GRCh37]
Chr15:15q15.1		 benign
NM_001211.6(BUB1B):c.2957+17G>A single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV002145519] Chr15:40218579 [GRCh38]
Chr15:40510780 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2851-16C>T single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV002109322] Chr15:40218440 [GRCh38]
Chr15:40510641 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2958-13dup duplication Mosaic variegated aneuploidy syndrome 1 [RCV002205184] Chr15:40220547..40220548 [GRCh38]
Chr15:40512748..40512749 [GRCh37]
Chr15:15q15.1		 benign
NM_001211.6(BUB1B):c.2817A>G (p.Gln939=) single nucleotide variant Inborn genetic diseases [RCV002434574]|Mosaic variegated aneuploidy syndrome 1 [RCV002148878] Chr15:40217634 [GRCh38]
Chr15:40509835 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.3024A>G (p.Thr1008=) single nucleotide variant Inborn genetic diseases [RCV002434496]|Mosaic variegated aneuploidy syndrome 1 [RCV002115334] Chr15:40220630 [GRCh38]
Chr15:40512831 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2686G>A (p.Asp896Asn) single nucleotide variant See cases [RCV002253096] Chr15:40217503 [GRCh38]
Chr15:40509704 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2957+8T>C single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV002098623] Chr15:40218570 [GRCh38]
Chr15:40510771 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2957+16T>C single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV002122435] Chr15:40218578 [GRCh38]
Chr15:40510779 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2838T>G (p.Ser946=) single nucleotide variant Inborn genetic diseases [RCV002435210] Chr15:40217655 [GRCh38]
Chr15:40509856 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2991T>C (p.Phe997=) single nucleotide variant Inborn genetic diseases [RCV002435503] Chr15:40220597 [GRCh38]
Chr15:40512798 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2996G>T (p.Arg999Leu) single nucleotide variant Inborn genetic diseases [RCV002435550] Chr15:40220602 [GRCh38]
Chr15:40512803 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2999T>G (p.Ile1000Ser) single nucleotide variant Inborn genetic diseases [RCV002435572] Chr15:40220605 [GRCh38]
Chr15:40512806 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3013G>C (p.Asp1005His) single nucleotide variant Inborn genetic diseases [RCV002435799]|Mosaic variegated aneuploidy syndrome 1 [RCV003111556] Chr15:40220619 [GRCh38]
Chr15:40512820 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2685C>T (p.His895=) single nucleotide variant Inborn genetic diseases [RCV002453151] Chr15:40217502 [GRCh38]
Chr15:40509703 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.3034C>T (p.Leu1012Phe) single nucleotide variant Inborn genetic diseases [RCV002438140] Chr15:40220640 [GRCh38]
Chr15:40512841 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3021C>T (p.Ala1007=) single nucleotide variant Inborn genetic diseases [RCV002435892] Chr15:40220627 [GRCh38]
Chr15:40512828 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2816A>C (p.Gln939Pro) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV002297419] Chr15:40217633 [GRCh38]
Chr15:40509834 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2901A>G (p.Glu967=) single nucleotide variant Inborn genetic diseases [RCV002438081] Chr15:40218506 [GRCh38]
Chr15:40510707 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.3026T>C (p.Val1009Ala) single nucleotide variant Inborn genetic diseases [RCV002435938] Chr15:40220632 [GRCh38]
Chr15:40512833 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3010A>C (p.Asn1004His) single nucleotide variant Inborn genetic diseases [RCV002435779] Chr15:40220616 [GRCh38]
Chr15:40512817 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3029C>T (p.Ser1010Phe) single nucleotide variant Inborn genetic diseases [RCV002435962] Chr15:40220635 [GRCh38]
Chr15:40512836 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2694T>C (p.Tyr898=) single nucleotide variant Inborn genetic diseases [RCV002437365] Chr15:40217511 [GRCh38]
Chr15:40509712 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2864G>A (p.Gly955Asp) single nucleotide variant Inborn genetic diseases [RCV002437613] Chr15:40218469 [GRCh38]
Chr15:40510670 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2708A>G (p.Asn903Ser) single nucleotide variant Inborn genetic diseases [RCV002437425]|Mosaic variegated aneuploidy syndrome 1 [RCV003102129] Chr15:40217525 [GRCh38]
Chr15:40509726 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2829T>A (p.Ala943=) single nucleotide variant Inborn genetic diseases [RCV002435071] Chr15:40217646 [GRCh38]
Chr15:40509847 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2886A>G (p.Leu962=) single nucleotide variant Inborn genetic diseases [RCV002437845] Chr15:40218491 [GRCh38]
Chr15:40510692 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.3015T>G (p.Asp1005Glu) single nucleotide variant Inborn genetic diseases [RCV002435822]|Mosaic variegated aneuploidy syndrome 1 [RCV003444273] Chr15:40220621 [GRCh38]
Chr15:40512822 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3019G>A (p.Ala1007Thr) single nucleotide variant Inborn genetic diseases [RCV002435855] Chr15:40220625 [GRCh38]
Chr15:40512826 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2827G>A (p.Ala943Thr) single nucleotide variant Inborn genetic diseases [RCV002435045]|Mosaic variegated aneuploidy syndrome 1 [RCV003507461] Chr15:40217644 [GRCh38]
Chr15:40509845 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2735T>C (p.Phe912Ser) single nucleotide variant Inborn genetic diseases [RCV002437518] Chr15:40217552 [GRCh38]
Chr15:40509753 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2846A>G (p.Tyr949Cys) single nucleotide variant Inborn genetic diseases [RCV002435302] Chr15:40217663 [GRCh38]
Chr15:40509864 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2851G>A (p.Val951Ile) single nucleotide variant Inborn genetic diseases [RCV002435376] Chr15:40218456 [GRCh38]
Chr15:40510657 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2711A>G (p.Asn904Ser) single nucleotide variant Inborn genetic diseases [RCV003288291] Chr15:40217528 [GRCh38]
Chr15:40509729 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2747T>C (p.Val916Ala) single nucleotide variant Inborn genetic diseases [RCV002439309] Chr15:40217564 [GRCh38]
Chr15:40509765 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3091C>T (p.Leu1031=) single nucleotide variant Inborn genetic diseases [RCV002325809] Chr15:40220697 [GRCh38]
Chr15:40512898 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2811A>C (p.Glu937Asp) single nucleotide variant Inborn genetic diseases [RCV002441707] Chr15:40217628 [GRCh38]
Chr15:40509829 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2954C>T (p.Ser985Phe) single nucleotide variant Inborn genetic diseases [RCV002441907] Chr15:40218559 [GRCh38]
Chr15:40510760 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2779C>G (p.Leu927Val) single nucleotide variant Inborn genetic diseases [RCV002439692] Chr15:40217596 [GRCh38]
Chr15:40509797 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2971G>A (p.Glu991Lys) single nucleotide variant Inborn genetic diseases [RCV002442107] Chr15:40220577 [GRCh38]
Chr15:40512778 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3038G>A (p.Gly1013Glu) single nucleotide variant Inborn genetic diseases [RCV002438171] Chr15:40220644 [GRCh38]
Chr15:40512845 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3038G>C (p.Gly1013Ala) single nucleotide variant Inborn genetic diseases [RCV002438173] Chr15:40220644 [GRCh38]
Chr15:40512845 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2988C>G (p.Phe996Leu) single nucleotide variant Inborn genetic diseases [RCV002442281] Chr15:40220594 [GRCh38]
Chr15:40512795 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3139T>C (p.Leu1047=) single nucleotide variant Inborn genetic diseases [RCV002320686] Chr15:40220745 [GRCh38]
Chr15:40512946 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.3096C>G (p.Asn1032Lys) single nucleotide variant Inborn genetic diseases [RCV002325853] Chr15:40220702 [GRCh38]
Chr15:40512903 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3069T>C (p.Phe1023=) single nucleotide variant Inborn genetic diseases [RCV002444301] Chr15:40220675 [GRCh38]
Chr15:40512876 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.3070G>C (p.Asp1024His) single nucleotide variant Inborn genetic diseases [RCV002444345] Chr15:40220676 [GRCh38]
Chr15:40512877 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2764C>T (p.Leu922=) single nucleotide variant Inborn genetic diseases [RCV002439533] Chr15:40217581 [GRCh38]
Chr15:40509782 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2782A>G (p.Ser928Gly) single nucleotide variant Inborn genetic diseases [RCV002441319] Chr15:40217599 [GRCh38]
Chr15:40509800 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2804T>C (p.Ile935Thr) single nucleotide variant Inborn genetic diseases [RCV002441625]|Mosaic variegated aneuploidy syndrome 1 [RCV003618039] Chr15:40217621 [GRCh38]
Chr15:40509822 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2806C>T (p.Leu936=) single nucleotide variant Inborn genetic diseases [RCV002441644] Chr15:40217623 [GRCh38]
Chr15:40509824 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.3136G>C (p.Ala1046Pro) single nucleotide variant Inborn genetic diseases [RCV002320648] Chr15:40220742 [GRCh38]
Chr15:40512943 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2820G>T (p.Lys940Asn) single nucleotide variant Inborn genetic diseases [RCV002441821]|Mosaic variegated aneuploidy syndrome 1 [RCV003102756] Chr15:40217637 [GRCh38]
Chr15:40509838 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3142C>T (p.Leu1048Phe) single nucleotide variant Inborn genetic diseases [RCV002320738] Chr15:40220748 [GRCh38]
Chr15:40512949 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2956G>C (p.Glu986Gln) single nucleotide variant Inborn genetic diseases [RCV002441923] Chr15:40218561 [GRCh38]
Chr15:40510762 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2781C>T (p.Leu927=) single nucleotide variant Inborn genetic diseases [RCV002441309] Chr15:40217598 [GRCh38]
Chr15:40509799 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2794A>G (p.Thr932Ala) single nucleotide variant Inborn genetic diseases [RCV002441454] Chr15:40217611 [GRCh38]
Chr15:40509812 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2797G>A (p.Val933Ile) single nucleotide variant Inborn genetic diseases [RCV002441476] Chr15:40217614 [GRCh38]
Chr15:40509815 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3078A>T (p.Thr1026=) single nucleotide variant Inborn genetic diseases [RCV002319842] Chr15:40220684 [GRCh38]
Chr15:40512885 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2745T>C (p.Ser915=) single nucleotide variant Inborn genetic diseases [RCV002439294] Chr15:40217562 [GRCh38]
Chr15:40509763 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2746G>A (p.Val916Ile) single nucleotide variant Inborn genetic diseases [RCV002439300] Chr15:40217563 [GRCh38]
Chr15:40509764 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2809G>A (p.Glu937Lys) single nucleotide variant Inborn genetic diseases [RCV002441672] Chr15:40217626 [GRCh38]
Chr15:40509827 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2763G>A (p.Gln921=) single nucleotide variant Inborn genetic diseases [RCV002439527] Chr15:40217580 [GRCh38]
Chr15:40509781 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2768A>G (p.Asp923Gly) single nucleotide variant Inborn genetic diseases [RCV002439567] Chr15:40217585 [GRCh38]
Chr15:40509786 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2985A>C (p.Lys995Asn) single nucleotide variant Inborn genetic diseases [RCV002442241] Chr15:40220591 [GRCh38]
Chr15:40512792 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3063G>A (p.Gly1021=) single nucleotide variant Inborn genetic diseases [RCV002444243] Chr15:40220669 [GRCh38]
Chr15:40512870 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.3065T>A (p.Val1022Asp) single nucleotide variant Inborn genetic diseases [RCV002444269] Chr15:40220671 [GRCh38]
Chr15:40512872 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2910G>T (p.Gln970His) single nucleotide variant Inborn genetic diseases [RCV002439831] Chr15:40218515 [GRCh38]
Chr15:40510716 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3042G>A (p.Glu1014=) single nucleotide variant Inborn genetic diseases [RCV002444019] Chr15:40220648 [GRCh38]
Chr15:40512849 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.3050C>G (p.Ala1017Gly) single nucleotide variant Inborn genetic diseases [RCV002444114] Chr15:40220656 [GRCh38]
Chr15:40512857 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3062G>C (p.Gly1021Ala) single nucleotide variant Inborn genetic diseases [RCV002444236]|Mosaic variegated aneuploidy syndrome 1 [RCV003103023] Chr15:40220668 [GRCh38]
Chr15:40512869 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2928C>T (p.Ser976=) single nucleotide variant Inborn genetic diseases [RCV002440014] Chr15:40218533 [GRCh38]
Chr15:40510734 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2931C>T (p.Phe977=) single nucleotide variant Inborn genetic diseases [RCV002440072]|Mosaic variegated aneuploidy syndrome 1 [RCV003102893] Chr15:40218536 [GRCh38]
Chr15:40510737 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.3063G>C (p.Gly1021=) single nucleotide variant Inborn genetic diseases [RCV002444246] Chr15:40220669 [GRCh38]
Chr15:40512870 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.3103T>G (p.Leu1035Val) single nucleotide variant Inborn genetic diseases [RCV002326009] Chr15:40220709 [GRCh38]
Chr15:40512910 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2781C>G (p.Leu927=) single nucleotide variant Inborn genetic diseases [RCV002441305] Chr15:40217598 [GRCh38]
Chr15:40509799 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2808G>T (p.Leu936=) single nucleotide variant Inborn genetic diseases [RCV002441663] Chr15:40217625 [GRCh38]
Chr15:40509826 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.3102C>T (p.Ala1034=) single nucleotide variant Inborn genetic diseases [RCV002325996] Chr15:40220708 [GRCh38]
Chr15:40512909 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2802G>C (p.Gln934His) single nucleotide variant Inborn genetic diseases [RCV002441608] Chr15:40217619 [GRCh38]
Chr15:40509820 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2988C>T (p.Phe996=) single nucleotide variant Inborn genetic diseases [RCV002442284]|Mosaic variegated aneuploidy syndrome 1 [RCV003102949] Chr15:40220594 [GRCh38]
Chr15:40512795 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2703C>T (p.Asn901=) single nucleotide variant Inborn genetic diseases [RCV002429021]|Mosaic variegated aneuploidy syndrome 1 [RCV003102122] Chr15:40217520 [GRCh38]
Chr15:40509721 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.3128G>A (p.Ser1043Asn) single nucleotide variant Inborn genetic diseases [RCV002320546] Chr15:40220734 [GRCh38]
Chr15:40512935 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3115G>A (p.Gly1039Arg) single nucleotide variant Inborn genetic diseases [RCV002320431] Chr15:40220721 [GRCh38]
Chr15:40512922 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3125C>G (p.Thr1042Ser) single nucleotide variant Inborn genetic diseases [RCV002320518] Chr15:40220731 [GRCh38]
Chr15:40512932 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2870C>G (p.Ala957Gly) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV002301647] Chr15:40218475 [GRCh38]
Chr15:40510676 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2748T>G (p.Val916=) single nucleotide variant Inborn genetic diseases [RCV002439322] Chr15:40217565 [GRCh38]
Chr15:40509766 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2756G>A (p.Arg919Lys) single nucleotide variant Inborn genetic diseases [RCV002439420] Chr15:40217573 [GRCh38]
Chr15:40509774 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2909A>C (p.Gln970Pro) single nucleotide variant Inborn genetic diseases [RCV002439789] Chr15:40218514 [GRCh38]
Chr15:40510715 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2905C>T (p.Leu969=) single nucleotide variant Inborn genetic diseases [RCV002439749] Chr15:40218510 [GRCh38]
Chr15:40510711 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001395430.1(PAK6):c.842C>T (p.Pro281Leu) single nucleotide variant not specified [RCV004102803] Chr15:40266479 [GRCh38]
Chr15:40558680 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.149C>T (p.Pro50Leu) single nucleotide variant not specified [RCV004161144] Chr15:40264934 [GRCh38]
Chr15:40557135 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.563C>G (p.Ala188Gly) single nucleotide variant not specified [RCV004224351] Chr15:40266200 [GRCh38]
Chr15:40558401 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.373G>A (p.Asp125Asn) single nucleotide variant not specified [RCV004209321] Chr15:40266010 [GRCh38]
Chr15:40558211 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.499C>T (p.Arg167Trp) single nucleotide variant not specified [RCV004210620] Chr15:40266136 [GRCh38]
Chr15:40558337 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.614G>C (p.Gly205Ala) single nucleotide variant not specified [RCV004120276] Chr15:40266251 [GRCh38]
Chr15:40558452 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2851-5T>C single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV002824107] Chr15:40218451 [GRCh38]
Chr15:40510652 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2829T>C (p.Ala943=) single nucleotide variant Inborn genetic diseases [RCV004071865]|Mosaic variegated aneuploidy syndrome 1 [RCV003079810] Chr15:40217646 [GRCh38]
Chr15:40509847 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001395430.1(PAK6):c.248C>T (p.Ser83Leu) single nucleotide variant not specified [RCV004080947] Chr15:40265885 [GRCh38]
Chr15:40558086 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2902C>T (p.His968Tyr) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV003035827] Chr15:40218507 [GRCh38]
Chr15:40510708 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2848C>T (p.Gln950Ter) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV002761264] Chr15:40217665 [GRCh38]
Chr15:40509866 [GRCh37]
Chr15:15q15.1		 pathogenic
NM_001395430.1(PAK6):c.467A>G (p.Lys156Arg) single nucleotide variant not specified [RCV004205794] Chr15:40266104 [GRCh38]
Chr15:40558305 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2958-13T>A single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV002785306] Chr15:40220551 [GRCh38]
Chr15:40512752 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001395430.1(PAK6):c.1609G>A (p.Asp537Asn) single nucleotide variant not specified [RCV004234154] Chr15:40273464 [GRCh38]
Chr15:40565665 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.1455G>T (p.Gln485His) single nucleotide variant not specified [RCV004194597] Chr15:40272964 [GRCh38]
Chr15:40565165 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.939G>C (p.Gln313His) single nucleotide variant not specified [RCV004102906] Chr15:40272304 [GRCh38]
Chr15:40564505 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3031G>T (p.Val1011Phe) single nucleotide variant Inborn genetic diseases [RCV002762902] Chr15:40220637 [GRCh38]
Chr15:40512838 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2820G>C (p.Lys940Asn) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV002745582] Chr15:40217637 [GRCh38]
Chr15:40509838 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3149A>G (p.Gln1050Arg) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV002643379] Chr15:40220755 [GRCh38]
Chr15:40512956 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2957+19C>T single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV002890395] Chr15:40218581 [GRCh38]
Chr15:40510782 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2681T>A (p.Ile894Asn) single nucleotide variant Inborn genetic diseases [RCV003161725]|Mosaic variegated aneuploidy syndrome 1 [RCV003084014] Chr15:40217498 [GRCh38]
Chr15:40509699 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.113C>A (p.Pro38Gln) single nucleotide variant not specified [RCV004246705] Chr15:40264898 [GRCh38]
Chr15:40557099 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.1303G>A (p.Val435Ile) single nucleotide variant not specified [RCV004162783] Chr15:40272668 [GRCh38]
Chr15:40564869 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.610C>G (p.Pro204Ala) single nucleotide variant not specified [RCV004184176] Chr15:40266247 [GRCh38]
Chr15:40558448 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.8G>T (p.Arg3Leu) single nucleotide variant not specified [RCV004105210] Chr15:40264793 [GRCh38]
Chr15:40556994 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.1109C>T (p.Pro370Leu) single nucleotide variant not specified [RCV004138621] Chr15:40272474 [GRCh38]
Chr15:40564675 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.262G>A (p.Asp88Asn) single nucleotide variant not specified [RCV004195776] Chr15:40265899 [GRCh38]
Chr15:40558100 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2828C>T (p.Ala943Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV002811408] Chr15:40217645 [GRCh38]
Chr15:40509846 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2820G>A (p.Lys940=) single nucleotide variant Inborn genetic diseases [RCV003377890]|Mosaic variegated aneuploidy syndrome 1 [RCV002599317] Chr15:40217637 [GRCh38]
Chr15:40509838 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2737T>G (p.Ser913Ala) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV002810243] Chr15:40217554 [GRCh38]
Chr15:40509755 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3107G>T (p.Trp1036Leu) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV003050399] Chr15:40220713 [GRCh38]
Chr15:40512914 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3119A>G (p.Lys1040Arg) single nucleotide variant Ovarian cancer [RCV003154677] Chr15:40220725 [GRCh38]
Chr15:40512926 [GRCh37]
Chr15:15q15.1		 benign
NM_001395430.1(PAK6):c.484G>A (p.Glu162Lys) single nucleotide variant not specified [RCV004250556] Chr15:40266121 [GRCh38]
Chr15:40558322 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2969G>A (p.Gly990Asp) single nucleotide variant Inborn genetic diseases [RCV003177240] Chr15:40220575 [GRCh38]
Chr15:40512776 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2930T>C (p.Phe977Ser) single nucleotide variant Inborn genetic diseases [RCV003177246] Chr15:40218535 [GRCh38]
Chr15:40510736 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.167C>T (p.Pro56Leu) single nucleotide variant not specified [RCV004273937] Chr15:40264952 [GRCh38]
Chr15:40557153 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2904C>G (p.His968Gln) single nucleotide variant Inborn genetic diseases [RCV003214102] Chr15:40218509 [GRCh38]
Chr15:40510710 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2888T>C (p.Leu963Pro) single nucleotide variant Inborn genetic diseases [RCV003214106] Chr15:40218493 [GRCh38]
Chr15:40510694 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2828C>G (p.Ala943Gly) single nucleotide variant Inborn genetic diseases [RCV003214111]|Mosaic variegated aneuploidy syndrome 1 [RCV003779776] Chr15:40217645 [GRCh38]
Chr15:40509846 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.1811A>T (p.Asp604Val) single nucleotide variant not specified [RCV004267040] Chr15:40274209 [GRCh38]
Chr15:40566410 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.1291C>T (p.Arg431Cys) single nucleotide variant not specified [RCV004258698] Chr15:40272656 [GRCh38]
Chr15:40564857 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3061G>A (p.Gly1021Arg) single nucleotide variant Inborn genetic diseases [RCV003214119] Chr15:40220667 [GRCh38]
Chr15:40512868 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2931C>A (p.Phe977Leu) single nucleotide variant Inborn genetic diseases [RCV003177229] Chr15:40218536 [GRCh38]
Chr15:40510737 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001395430.1(PAK6):c.1057C>T (p.Arg353Cys) single nucleotide variant not specified [RCV004248558] Chr15:40272422 [GRCh38]
Chr15:40564623 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2942G>A (p.Ser981Asn) single nucleotide variant Inborn genetic diseases [RCV003288474] Chr15:40218547 [GRCh38]
Chr15:40510748 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3088C>T (p.His1030Tyr) single nucleotide variant Inborn genetic diseases [RCV003310151] Chr15:40220694 [GRCh38]
Chr15:40512895 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2762A>C (p.Gln921Pro) single nucleotide variant Inborn genetic diseases [RCV003339063] Chr15:40217579 [GRCh38]
Chr15:40509780 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.1273C>T (p.Arg425Trp) single nucleotide variant not specified [RCV004342633] Chr15:40272638 [GRCh38]
Chr15:40564839 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.325C>T (p.Arg109Trp) single nucleotide variant not specified [RCV004336652] Chr15:40265962 [GRCh38]
Chr15:40558163 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2754T>C (p.Leu918=) single nucleotide variant Inborn genetic diseases [RCV003349420] Chr15:40217571 [GRCh38]
Chr15:40509772 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001395430.1(PAK6):c.682C>T (p.Arg228Trp) single nucleotide variant not specified [RCV004343878] Chr15:40266319 [GRCh38]
Chr15:40558520 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.772C>T (p.Arg258Cys) single nucleotide variant not specified [RCV004336639] Chr15:40266409 [GRCh38]
Chr15:40558610 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.113C>G (p.Pro38Arg) single nucleotide variant not specified [RCV004343199] Chr15:40264898 [GRCh38]
Chr15:40557099 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2686G>T (p.Asp896Tyr) single nucleotide variant Inborn genetic diseases [RCV003377523] Chr15:40217503 [GRCh38]
Chr15:40509704 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.1124G>A (p.Gly375Asp) single nucleotide variant not specified [RCV004354482] Chr15:40272489 [GRCh38]
Chr15:40564690 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2850+18C>T single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV003508631] Chr15:40217685 [GRCh38]
Chr15:40509886 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.3045T>C (p.Leu1015=) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV003507132] Chr15:40220651 [GRCh38]
Chr15:40512852 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2885T>C (p.Leu962Ser) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV003507024] Chr15:40218490 [GRCh38]
Chr15:40510691 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2851-14T>C single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV003835931] Chr15:40218442 [GRCh38]
Chr15:40510643 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2706G>C (p.Lys902Asn) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV003811637] Chr15:40217523 [GRCh38]
Chr15:40509724 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2896A>T (p.Lys966Ter) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV003618534] Chr15:40218501 [GRCh38]
Chr15:40510702 [GRCh37]
Chr15:15q15.1		 pathogenic
NM_001211.6(BUB1B):c.2921A>C (p.Asp974Ala) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV003617552] Chr15:40218526 [GRCh38]
Chr15:40510727 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2957+5G>A single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV003617788] Chr15:40218567 [GRCh38]
Chr15:40510768 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3029C>G (p.Ser1010Cys) single nucleotide variant Mosaic variegated aneuploidy syndrome 1 [RCV003860116] Chr15:40220635 [GRCh38]
Chr15:40512836 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.410G>A (p.Arg137His) single nucleotide variant not specified [RCV004499997] Chr15:40266047 [GRCh38]
Chr15:40558248 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.41C>T (p.Ala14Val) single nucleotide variant not specified [RCV004499998] Chr15:40264826 [GRCh38]
Chr15:40557027 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.1069G>A (p.Ala357Thr) single nucleotide variant not specified [RCV004499987] Chr15:40272434 [GRCh38]
Chr15:40564635 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.1306A>G (p.Lys436Glu) single nucleotide variant not specified [RCV004499989] Chr15:40272671 [GRCh38]
Chr15:40564872 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.946G>A (p.Gly316Arg) single nucleotide variant not specified [RCV004500000] Chr15:40272311 [GRCh38]
Chr15:40564512 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.1985G>A (p.Gly662Glu) single nucleotide variant not specified [RCV004499993] Chr15:40276033 [GRCh38]
Chr15:40568234 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.215G>A (p.Arg72Gln) single nucleotide variant not specified [RCV004499994] Chr15:40265852 [GRCh38]
Chr15:40558053 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.713C>T (p.Thr238Ile) single nucleotide variant not specified [RCV004499999] Chr15:40266350 [GRCh38]
Chr15:40558551 [GRCh37]
Chr15:15q15.1		 uncertain significance
NR_168270.1(PAK6-AS1):n.214G>T single nucleotide variant not specified [RCV004500001] Chr15:40252746 [GRCh38]
Chr15:40544947 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2682C>G (p.Ile894Met) single nucleotide variant Inborn genetic diseases [RCV004508254] Chr15:40217499 [GRCh38]
Chr15:40509700 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2690C>G (p.Pro897Arg) single nucleotide variant Inborn genetic diseases [RCV004508255] Chr15:40217507 [GRCh38]
Chr15:40509708 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.26G>A (p.Arg9His) single nucleotide variant not specified [RCV004499995] Chr15:40264811 [GRCh38]
Chr15:40557012 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.40G>C (p.Ala14Pro) single nucleotide variant not specified [RCV004499996] Chr15:40264825 [GRCh38]
Chr15:40557026 [GRCh37]
Chr15:15q15.1		 uncertain significance
NR_168270.1(PAK6-AS1):n.228G>A single nucleotide variant not specified [RCV004500002] Chr15:40252732 [GRCh38]
Chr15:40544933 [GRCh37]
Chr15:15q15.1		 uncertain significance
NR_168270.1(PAK6-AS1):n.166G>T single nucleotide variant not specified [RCV004500003] Chr15:40252794 [GRCh38]
Chr15:40544995 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2898G>T (p.Lys966Asn) single nucleotide variant Inborn genetic diseases [RCV004508261] Chr15:40218503 [GRCh38]
Chr15:40510704 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2910G>A (p.Gln970=) single nucleotide variant Inborn genetic diseases [RCV004508262] Chr15:40218515 [GRCh38]
Chr15:40510716 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2913C>G (p.Val971=) single nucleotide variant Inborn genetic diseases [RCV004508263] Chr15:40218518 [GRCh38]
Chr15:40510719 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2947A>G (p.Asn983Asp) single nucleotide variant Inborn genetic diseases [RCV004508265] Chr15:40218552 [GRCh38]
Chr15:40510753 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3007G>A (p.Ala1003Thr) single nucleotide variant Inborn genetic diseases [RCV004508266] Chr15:40220613 [GRCh38]
Chr15:40512814 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3012T>C (p.Asn1004=) single nucleotide variant Inborn genetic diseases [RCV004508267] Chr15:40220618 [GRCh38]
Chr15:40512819 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.3013G>A (p.Asp1005Asn) single nucleotide variant Inborn genetic diseases [RCV004508268] Chr15:40220619 [GRCh38]
Chr15:40512820 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2691C>T (p.Pro897=) single nucleotide variant Inborn genetic diseases [RCV004508256] Chr15:40217508 [GRCh38]
Chr15:40509709 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2696A>G (p.Asp899Gly) single nucleotide variant Inborn genetic diseases [RCV004508257] Chr15:40217513 [GRCh38]
Chr15:40509714 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2779C>T (p.Leu927Phe) single nucleotide variant Inborn genetic diseases [RCV004508258] Chr15:40217596 [GRCh38]
Chr15:40509797 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2844C>T (p.Pro948=) single nucleotide variant Inborn genetic diseases [RCV004508259] Chr15:40217661 [GRCh38]
Chr15:40509862 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2876T>C (p.Leu959Ser) single nucleotide variant Inborn genetic diseases [RCV004508260] Chr15:40218481 [GRCh38]
Chr15:40510682 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3026T>G (p.Val1009Gly) single nucleotide variant Inborn genetic diseases [RCV004508270] Chr15:40220632 [GRCh38]
Chr15:40512833 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3116G>A (p.Gly1039Glu) single nucleotide variant Inborn genetic diseases [RCV004508271] Chr15:40220722 [GRCh38]
Chr15:40512923 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3117G>A (p.Gly1039=) single nucleotide variant Inborn genetic diseases [RCV004508272] Chr15:40220723 [GRCh38]
Chr15:40512924 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.3125C>T (p.Thr1042Ile) single nucleotide variant Inborn genetic diseases [RCV004508273] Chr15:40220731 [GRCh38]
Chr15:40512932 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.3127A>T (p.Ser1043Cys) single nucleotide variant Inborn genetic diseases [RCV004508274] Chr15:40220733 [GRCh38]
Chr15:40512934 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3134G>A (p.Gly1045Glu) single nucleotide variant Inborn genetic diseases [RCV004508275] Chr15:40220740 [GRCh38]
Chr15:40512941 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.1951G>A (p.Glu651Lys) single nucleotide variant not specified [RCV004499992] Chr15:40275999 [GRCh38]
Chr15:40568200 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.1292G>T (p.Arg431Leu) single nucleotide variant not specified [RCV004499988] Chr15:40272657 [GRCh38]
Chr15:40564858 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.157G>A (p.Val53Met) single nucleotide variant not specified [RCV004499990] Chr15:40264942 [GRCh38]
Chr15:40557143 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.1853C>A (p.Pro618Gln) single nucleotide variant not specified [RCV004499991] Chr15:40274251 [GRCh38]
Chr15:40566452 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2812G>A (p.Gly938Arg) single nucleotide variant Inborn genetic diseases [RCV004604292] Chr15:40217629 [GRCh38]
Chr15:40509830 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2717C>T (p.Ala906Val) single nucleotide variant Inborn genetic diseases [RCV004604301] Chr15:40217534 [GRCh38]
Chr15:40509735 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3098A>G (p.Lys1033Arg) single nucleotide variant Inborn genetic diseases [RCV004607208] Chr15:40220704 [GRCh38]
Chr15:40512905 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.1046C>T (p.Ala349Val) single nucleotide variant not specified [RCV004650729] Chr15:40272411 [GRCh38]
Chr15:40564612 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.917C>G (p.Ala306Gly) single nucleotide variant not specified [RCV004650731] Chr15:40272282 [GRCh38]
Chr15:40564483 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3124A>T (p.Thr1042Ser) single nucleotide variant Inborn genetic diseases [RCV004604261] Chr15:40220730 [GRCh38]
Chr15:40512931 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.142C>T (p.Arg48Trp) single nucleotide variant not specified [RCV004664027] Chr15:40264927 [GRCh38]
Chr15:40557128 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3048A>G (p.Ala1016=) single nucleotide variant Inborn genetic diseases [RCV004604250] Chr15:40220654 [GRCh38]
Chr15:40512855 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2759T>G (p.Val920Gly) single nucleotide variant Inborn genetic diseases [RCV004604252] Chr15:40217576 [GRCh38]
Chr15:40509777 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2967T>C (p.Asp989=) single nucleotide variant Inborn genetic diseases [RCV004604258] Chr15:40220573 [GRCh38]
Chr15:40512774 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2896A>G (p.Lys966Glu) single nucleotide variant Inborn genetic diseases [RCV004604267] Chr15:40218501 [GRCh38]
Chr15:40510702 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3037G>C (p.Gly1013Arg) single nucleotide variant Inborn genetic diseases [RCV004604271] Chr15:40220643 [GRCh38]
Chr15:40512844 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.3047C>A (p.Ala1016Glu) single nucleotide variant Inborn genetic diseases [RCV004604295] Chr15:40220653 [GRCh38]
Chr15:40512854 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3025G>T (p.Val1009Leu) single nucleotide variant Inborn genetic diseases [RCV004604299] Chr15:40220631 [GRCh38]
Chr15:40512832 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2787C>T (p.Gly929=) single nucleotide variant Inborn genetic diseases [RCV004604279] Chr15:40217604 [GRCh38]
Chr15:40509805 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001395430.1(PAK6):c.620C>T (p.Ser207Leu) single nucleotide variant not specified [RCV004664028] Chr15:40266257 [GRCh38]
Chr15:40558458 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001395430.1(PAK6):c.1231G>A (p.Val411Met) single nucleotide variant not specified [RCV004664029] Chr15:40272596 [GRCh38]
Chr15:40564797 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3131C>G (p.Pro1044Arg) single nucleotide variant Inborn genetic diseases [RCV004607204] Chr15:40220737 [GRCh38]
Chr15:40512938 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2904C>T (p.His968=) single nucleotide variant Inborn genetic diseases [RCV004604266] Chr15:40218509 [GRCh38]
Chr15:40510710 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001395430.1(PAK6):c.1093T>C (p.Tyr365His) single nucleotide variant not specified [RCV004650730] Chr15:40272458 [GRCh38]
Chr15:40564659 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2797G>T (p.Val933Leu) single nucleotide variant Inborn genetic diseases [RCV004604246] Chr15:40217614 [GRCh38]
Chr15:40509815 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.3135G>C (p.Gly1045=) single nucleotide variant Inborn genetic diseases [RCV004604268] Chr15:40220741 [GRCh38]
Chr15:40512942 [GRCh37]
Chr15:15q15.1		 likely benign
NM_001211.6(BUB1B):c.2786G>T (p.Gly929Val) single nucleotide variant Inborn genetic diseases [RCV004604278] Chr15:40217603 [GRCh38]
Chr15:40509804 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_001211.6(BUB1B):c.2706G>T (p.Lys902Asn) single nucleotide variant Inborn genetic diseases [RCV003341680] Chr15:40217523 [GRCh38]
Chr15:40509724 [GRCh37]
Chr15:15q15.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2044
Count of miRNA genes:889
Interacting mature miRNAs:1039
Transcripts:ENST00000558658, ENST00000558965, ENST00000559435, ENST00000559936
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2289410BW327_HBody weight QTL 327 (human)3.320.0001Body fat amount151998012945980129Human
407221892GWAS870868_Hschizophrenia QTL GWAS870868 (human)0.000004schizophrenia154025845940258460Human
1559411SCL107_HSerum cholesterol level QTL 107 (human)3.88Lipid leveltriglyceride152654355252543552Human
407261070GWAS910046_Hschizophrenia QTL GWAS910046 (human)2e-11schizophrenia154027455840274559Human
407152814GWAS801790_HCOVID-19 QTL GWAS801790 (human)0.000009COVID-19154023247540232476Human
407209582GWAS858558_Hschizophrenia QTL GWAS858558 (human)2e-08schizophrenia154027455840274559Human
407137551GWAS786527_Hschizophrenia QTL GWAS786527 (human)9e-08schizophrenia154027503640275037Human
1559354LDLPS4_HLow density lipoprotein particle size QTL 4 (human)2.20.019LDL particle size153479023060790230Human
407354474GWAS1003450_Heducational attainment QTL GWAS1003450 (human)8e-11educational attainment154026990440269905Human
2289420BW314_HBody weight QTL 314 (human)2.720.0003Body weightlean mass151998012945980129Human
407208587GWAS857563_Hlongitudinal BMI measurement, response to amisulpride QTL GWAS857563 (human)0.000005longitudinal BMI measurement, response to amisulpridebody mass index (BMI) (CMO:0000105)154025102240251023Human
407240873GWAS889849_Hbody height QTL GWAS889849 (human)6e-09body height (VT:0001253)body height (CMO:0000106)154026811440268115Human
1643273BW330_HBody Weight QTL 330 (human)1.050.014Body weightbody mass index152686671952866719Human
407134070GWAS783046_Hschizophrenia QTL GWAS783046 (human)0.0000003schizophrenia154027455840274559Human
2289430BMD7_HBone mineral density QTL 7 (human)3.320.0001Bone mineral density151998012945980129Human
2299958PRSTS330_HProstate tumor susceptibility QTL 330 (human)1.020.0151Prostate tumor susceptibility153479023060790230Human
407208592GWAS857568_Hlongitudinal BMI measurement, response to amisulpride QTL GWAS857568 (human)0.000009longitudinal BMI measurement, response to amisulpridebody mass index (BMI) (CMO:0000105)154025090340250904Human
407125010GWAS773986_Hschizophrenia QTL GWAS773986 (human)4e-09schizophrenia154027503640275037Human
406988730GWAS637706_HIGFBP-3 measurement QTL GWAS637706 (human)0.000001IGFBP-3 measurement154024066740240668Human
1643523BW284_HBody Weight QTL 284 (human)1.950.0013Body weight152179288947792889Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1200 2485 2780 2227 4987 1636 2329 8 521 1841 366 2290 7112 6372 39 3723 831 1847 1694 180

Sequence


Ensembl Acc Id: ENST00000260404   ⟹   ENSP00000260404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,239,870 - 40,277,487 (+)Ensembl
Ensembl Acc Id: ENST00000441369   ⟹   ENSP00000406873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,217,449 - 40,276,396 (+)Ensembl
Ensembl Acc Id: ENST00000453867   ⟹   ENSP00000401153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,217,428 - 40,276,181 (+)Ensembl
Ensembl Acc Id: ENST00000455577   ⟹   ENSP00000409465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,239,091 - 40,277,486 (+)Ensembl
Ensembl Acc Id: ENST00000542403   ⟹   ENSP00000439597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,253,184 - 40,277,487 (+)Ensembl
Ensembl Acc Id: ENST00000557808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,273,930 - 40,276,384 (+)Ensembl
Ensembl Acc Id: ENST00000557926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,266,612 - 40,272,354 (+)Ensembl
Ensembl Acc Id: ENST00000558055   ⟹   ENSP00000453407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,239,054 - 40,266,003 (+)Ensembl
Ensembl Acc Id: ENST00000558106   ⟹   ENSP00000453721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,252,190 - 40,266,006 (+)Ensembl
Ensembl Acc Id: ENST00000558183   ⟹   ENSP00000452647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,240,567 - 40,264,989 (+)Ensembl
Ensembl Acc Id: ENST00000558658   ⟹   ENSP00000456785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,217,587 - 40,276,387 (+)Ensembl
Ensembl Acc Id: ENST00000558878   ⟹   ENSP00000452737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,240,522 - 40,264,940 (+)Ensembl
Ensembl Acc Id: ENST00000559139   ⟹   ENSP00000452686
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,252,888 - 40,265,964 (+)Ensembl
Ensembl Acc Id: ENST00000559435   ⟹   ENSP00000457109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,218,500 - 40,264,890 (+)Ensembl
Ensembl Acc Id: ENST00000559617   ⟹   ENSP00000452708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,252,548 - 40,265,974 (+)Ensembl
Ensembl Acc Id: ENST00000559901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,266,014 - 40,266,982 (+)Ensembl
Ensembl Acc Id: ENST00000560346   ⟹   ENSP00000453858
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,239,063 - 40,277,487 (+)Ensembl
Ensembl Acc Id: ENST00000560669   ⟹   ENSP00000453021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,253,003 - 40,266,491 (+)Ensembl
Ensembl Acc Id: ENST00000560684   ⟹   ENSP00000453057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,252,551 - 40,264,980 (+)Ensembl
Ensembl Acc Id: ENST00000560806   ⟹   ENSP00000453005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,240,645 - 40,264,827 (+)Ensembl
Ensembl Acc Id: ENST00000561230   ⟹   ENSP00000453520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,238,759 - 40,265,951 (+)Ensembl
RefSeq Acc Id: NM_001128628   ⟹   NP_001122100
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,217,428 - 40,277,487 (+)NCBI
CHM1_11540,629,582 - 40,689,654 (+)NCBI
T2T-CHM13v2.01538,024,313 - 38,084,404 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001128629   ⟹   NP_001122101
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,217,428 - 40,277,487 (+)NCBI
CHM1_11540,629,582 - 40,689,654 (+)NCBI
T2T-CHM13v2.01538,024,313 - 38,084,404 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001122100   ⟸   NM_001128628
- UniProtKB: B3KYB0 (UniProtKB/Swiss-Prot),   A8K2G2 (UniProtKB/Swiss-Prot),   G5E9R2 (UniProtKB/Swiss-Prot),   Q9NQU5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001122101   ⟸   NM_001128629
- UniProtKB: B3KYB0 (UniProtKB/Swiss-Prot),   A8K2G2 (UniProtKB/Swiss-Prot),   G5E9R2 (UniProtKB/Swiss-Prot),   Q9NQU5 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000439597   ⟸   ENST00000542403
Ensembl Acc Id: ENSP00000453721   ⟸   ENST00000558106
Ensembl Acc Id: ENSP00000452647   ⟸   ENST00000558183
Ensembl Acc Id: ENSP00000453407   ⟸   ENST00000558055
Ensembl Acc Id: ENSP00000456785   ⟸   ENST00000558658
Ensembl Acc Id: ENSP00000452737   ⟸   ENST00000558878
Ensembl Acc Id: ENSP00000457109   ⟸   ENST00000559435
Ensembl Acc Id: ENSP00000452708   ⟸   ENST00000559617
Ensembl Acc Id: ENSP00000452686   ⟸   ENST00000559139
Ensembl Acc Id: ENSP00000401153   ⟸   ENST00000453867
Ensembl Acc Id: ENSP00000409465   ⟸   ENST00000455577
Ensembl Acc Id: ENSP00000406873   ⟸   ENST00000441369
Ensembl Acc Id: ENSP00000453858   ⟸   ENST00000560346
Ensembl Acc Id: ENSP00000453005   ⟸   ENST00000560806
Ensembl Acc Id: ENSP00000453057   ⟸   ENST00000560684
Ensembl Acc Id: ENSP00000453021   ⟸   ENST00000560669
Ensembl Acc Id: ENSP00000453520   ⟸   ENST00000561230
Ensembl Acc Id: ENSP00000260404   ⟸   ENST00000260404
Protein Domains
CRIB   Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NQU5-F1-model_v2 AlphaFold Q9NQU5 1-681 view protein structure

Promoters
RGD ID:7229081
Promoter ID:EPDNEW_H20287
Type:initiation region
Name:PAK6_7
Description:p21 activated kinase 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20279  EPDNEW_H20280  EPDNEW_H20281  EPDNEW_H20282  EPDNEW_H20283  EPDNEW_H20285  EPDNEW_H20284  EPDNEW_H20286  EPDNEW_H20288  EPDNEW_H20289  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,253,281 - 40,253,341EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:52276 AgrOrtholog
COSMIC BUB1B-PAK6 COSMIC
Ensembl Genes ENSG00000137843 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000259288 Ensembl, UniProtKB/TrEMBL
Ensembl Transcript ENST00000260404.8 UniProtKB/Swiss-Prot
  ENST00000441369 ENTREZGENE
  ENST00000441369.6 UniProtKB/Swiss-Prot
  ENST00000453867 ENTREZGENE
  ENST00000453867.7 UniProtKB/Swiss-Prot
  ENST00000455577.6 UniProtKB/Swiss-Prot
  ENST00000542403.3 UniProtKB/Swiss-Prot
  ENST00000558658.6 UniProtKB/Swiss-Prot
  ENST00000559435.1 UniProtKB/TrEMBL
  ENST00000560346.6 UniProtKB/Swiss-Prot
Gene3D-CATH 3.90.810.10 UniProtKB/Swiss-Prot
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000137843 GTEx
  ENSG00000259288 GTEx
HGNC ID HGNC:52276 ENTREZGENE
Human Proteome Map BUB1B-PAK6 Human Proteome Map
InterPro CRIB_dom UniProtKB/Swiss-Prot
  CRIB_dom_sf UniProtKB/Swiss-Prot
  Kinase-like_dom_sf UniProtKB/Swiss-Prot
  PAK6 UniProtKB/Swiss-Prot
  PAK_BD UniProtKB/Swiss-Prot
  Prot_kinase_dom UniProtKB/Swiss-Prot
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot
  STE20_Ser/Thr_kinase UniProtKB/Swiss-Prot
KEGG Report hsa:106821730 UniProtKB/Swiss-Prot
  hsa:56924 UniProtKB/Swiss-Prot
NCBI Gene BUB1B-PAK6 ENTREZGENE
PANTHER SERINE/THREONINE-PROTEIN KINASE PAK 6 UniProtKB/Swiss-Prot
  SERINE/THREONINE-PROTEIN KINASE TAO UniProtKB/Swiss-Prot
Pfam PBD UniProtKB/Swiss-Prot
  Pkinase UniProtKB/Swiss-Prot
PROSITE CRIB UniProtKB/Swiss-Prot
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot
SMART PBD UniProtKB/Swiss-Prot
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot
UniProt A8K2G2 ENTREZGENE
  B3KYB0 ENTREZGENE
  G5E9R2 ENTREZGENE
  H3BTB9_HUMAN UniProtKB/TrEMBL
  PAK6_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K2G2 UniProtKB/Swiss-Prot
  B3KYB0 UniProtKB/Swiss-Prot
  G5E9R2 UniProtKB/Swiss-Prot