Toggle navigation
Home
Browse
Tools
Mutation Finder
Variant Mapper
About
Display
NM_199003.2 - NP_945354.1
NM_018105.3 - NP_060575.1 (MANE)
DNA
Protein
Gene Info.
Genome Build
GRCh38
Chromosome
8
Location
Chr8:42,836,174-42,843,825
LOEUF
0.489
Variant filter
By data sources
ClinVar
Pathogenic/ Likely pa...
Risk factor
Drug response
Association
Affect
VUS
Benign/Likely benign
Others
GnomAD
Common [>1%]
Rare [<1%]
ToMMo
Common [>1%]
Rare [<1%]
By consequences
Missense
Loss-of-function
Synonymous
Others
Gene region:
CDS
SpliceSite
UTR
Intron
Flanking
External resources
NCBI Gene
55145
Ensembl
ENSG00000131931
GeneCards
THAP1
UniProt
Q9NVV9
KEGG
hsa:55145
gnomAD
ENSG00000131931
ICGC
ENSG00000131931
RefDIC
55145
RefEx
55145
DTX
THAP1
AS-ALPS
THAP1
THAP1
THAP domain containing 1
×
Warning!!
Variant Map
DNA Sequence
ORF ON
ORF OFF
Variant Map
Amino Acid Sequence
3D structure
Powered by
NGL
.
×
Available 3D structures for THAP1
Region
PDB code
Experiment
Protein name
Oligomeric state
%Identity
×
Options for Viewing Structures
Target protein
Style
Cartoon
Cartoon + Ball & Stick side-chains
Cartoon + Wireframe side-chains
Spacefill
Surface (It might take a while to show)
Color by
Variant source
Allele Frequency (in GnomAD)
Sequence Conservation
Secondary Structure
B-factor (pLDDT for AF2 model)
Element
Hydrophobicity
Electrostatic (Only Surface style)
Rainbow
The other protein(s)
Style
Cartoon
Cartoon + Ball & Stick side-chains
Cartoon + Wireframe side-chains
Backbone
Spacefill
Surface (It might take a while to show)
Color by
Chain
Display
On
Off
Nucleotides
Color by
Element
Rainbow
Display
On
Off
Ligands & Ions
Color
By Element
Display
On
Off
Contacts
Display
On
Off
×
Viewing Sequences
Single/MSA
Alignment
Single
Window Height
Short
Tall
Grande
Venti
Variant Table
variants
CSV
Show All
×
variants
Variant
Consequence
dbSNP
Allele Frequency
Clinical Significance
Prediction