SVIL (GeneID: 450874) | Pan troglodytes
Description: supervillin [Source:VGNC Symbol;Acc:VGNC:5797]
Synonyms:
Other ID(s): ENSPTRG00000002392
Protein Accession Numbers: XP_016818342, XP_016818351, XP_016818360, XP_016818339, XP_016818348, XP_016818357, XP_016818344, XP_016818353, XP_016818341, XP_016818350, XP_016818359, XP_009456468, XP_016818347, XP_016818356, XP_016818343, XP_016818352, XP_016818340, XP_016818349, XP_016818358, XP_001136112, XP_016818346, XP_016818354
Statistics: ClinVar(51) gnomAD(4054) COSMIC(2309) PTM(114)
ClinVar Pathogenicity of Variations help
92%4%4%10010090908080707060605050404030302020101000
Benign
Pathogenic
VUS
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∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000355867 You are here now! ENST00000375398 You are here now! ENST00000375400 ENST00000535393 ENST00000538146 NP_001310528 NP_001310529 NP_003165 NP_068506 You are here now!


import_contactsClinVar Data

healinggnomAD
66%29%10010090908080707060605050404030302020101000
Frameshift Variant
Inframe Deletion
Inframe Insertion
Missense Variant
Splice Region Variant
Stop Gained
Stop Lost
Synonymous Variant
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placePost-translational Modifications (PTMs)
2%3%89%6%10010090908080707060605050404030302020101000
Acetylation
Methylation
Phosphorylation
Ubiquitination
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blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
2%13%33%3%49%10010090908080707060605050404030302020101000
Deletion - Frameshift
Deletion - In Frame
Insertion - Frameshift
Substitution - Coding Silent
Substitution - Missense
Substitution - Nonsense
Unknown
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format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00626 Gelsolin Gelsolin repeat 1453-1521 CL0092 ADF Homo sapiens
PF02209 VHP Villin headpiece domain 2179-2214 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Leukemia, Myelocytic, Acute Neoplasms ; 0.857 0.103
Acute Myeloid Leukemia, M1 Neoplasms ; 0.857 0.103
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.857 0.103
NO RESULT FOUND
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