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Search ...
Go!
Schema
>
EntityWithAccessionedSequence
>
Entries
KMT2D R4975Vfs*20 [nucleoplasm]
Show undefined attributes
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candidateOf
[CandidateSet:R-HSA-9945024] KMT2D LOF variants (WRAD binding) [nucleoplasm] - Homo sapiens
compartment
[Compartment:7660] nucleoplasm
created
[InstanceEdit:9952587] Orlic-Milacic, Marija, 2025年05月28日
crossReference
[DatabaseIdentifier:11945102] Mondo:0016512
[DatabaseIdentifier:9952068] ClinVar:VCV001299667
dbId
9952322
disease
[Disease:9944973] Kabuki syndrome
displayName
KMT2D R4975Vfs*20 [nucleoplasm]
endCoordinate
4993
hasModifiedResidue
[FragmentReplacedModification:9952243] Replacement of residues 4975 to 4993 by VLLASRNGKECAGSGFGCC
inDisease
true
maxDepth
1
name
KMT2D R4975Vfs*20
referenceEntity
[ReferenceGeneProduct:uniprot:O14686] UniProt:O14686 KMT2D
referenceType
ReferenceGeneProduct
schemaClass
EntityWithAccessionedSequence
species
[Species:48887] Homo sapiens
stId
R-HSA-9952322
startCoordinate
1
Referrals
(hasCandidate)
[CandidateSet:R-HSA-9945024] KMT2D LOF variants (WRAD binding) [nucleoplasm]
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