| Type | Description |
|---|---|
| Definition | von Willebrand factor A domain containing 3B |
| Date | Results | Publications |
|---|---|---|
| 2017-06-03 11:42:00 | Mutated VWA3B was found to be likely associated with cerebellar degeneration with intellectual disability. Although a rare cause of cerebellar degeneration, these findings indicate a critical role for VWA3B in the apoptosis pathway in neuronal tissues. | 26157035 |
| 2010-06-30 22:06:00 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | 20379614 |
| Type | IDs |
|---|---|
| Synonymous | SCAR22 |
| Gene |
UniProtKB-ID:
VWA3B_HUMAN,
B7Z3D8_HUMAN
UniprotKB:
Q502W6,
B7Z3D8
UniParc:
UPI000050D056,
UPI00000704F6,
UPI0001914BBF,
UPI0000140E1E,
UPI000041094F,
UPI0001D147A1,
UPI0000E9B173,
UPI000188165F,
UPI0000140E44
EMBL:
AL834173,
BC095480,
AL832635,
AC018691,
BC022028,
AC092675,
AK090786,
AK093084,
AK292397,
AK098841,
BC150653,
AL834385,
AK295743,
AC112788
Ensembl:
ENSG00000168658
KO:
hsa:200403
|
| Nucleutide sequences |
EMBL-CDS:
BAC03518.1,
AAH95480.1,
CAD39048.1,
BAC04047.1,
CAD89964.1,
AAH22028.1,
CAD38871.1,
AAI50654.1,
BAC05431.1,
BAF85086.1,
BAH12174.1
Ensembl_TRS:
ENST00000433678,
ENST00000614454,
ENST00000477737
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000388158,
ENSP00000484764,
ENSP00000417955
RefSeq:
XP_006712420.1,
XP_024308512.1,
XP_006712422.1,
XP_016859053.1,
XP_016859050.1,
XP_011509073.1,
XP_011509074.1,
XP_005263954.1,
XP_011509076.1,
NP_659429.4,
XP_011509077.1,
NP_001332793.1,
XP_016859051.1,
XP_011509072.1
|
| Others |
UniRef100:
UniRef100_B7Z3D8,
UniRef100_Q502W6
UniRef90:
UniRef90_B7Z3D8,
UniRef90_Q502W6
UniRef50:
UniRef50_A0A485P349,
UniRef50_Q502W6
UniGene:
Hs.269977
CCDS:
CCDS42718.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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