Variant interpretation

Unified workflow for SNV, insertion/deletion, and frameshift effects: summary-like visual tracks, alignment-aware loss/gain regions, predicted motif changes, and structural/clinical context cards.

Input can come from protein lookup or pasted sequences. Use the builder tools to create mutations, then inspect the same context sections you use on Mutation Browse.

Search mutations & samples Variant interpretation (WT vs mutant, sequence deltas)
Unified interpretation + browse-style context cards
Quick examples optional
Show / hide
Analyse custom regions
Motif gain / de novo
Motif loss
Sequence edits (indel/frameshift)
Browse mutation
ClinVar Variant
Cancer Sample ID
Protein Position
Step 1
Step 2
Step 3
Step 2
Step 4
Sequence and mutation input
Same autocomplete as Mutation browse (main isoform). Ambiguous text (e.g. «P53») is rejected until you select a row.
Mutation builder (click residue)
No residue selected.
Frameshift builder (WT -> Mutant)
Use WT sequence above, then generate mutant edits.
Generated sequence is written into the Mutant sequence field.
Mutation browse matches
Type Disease / cancer DB Clinical sig. Gene Gencode ID Mut Pos Order/Disorder ID Analyse
Loading pipeline…

    WT / context
    No data loaded.
    Mutant / mode
    No data loaded.
    Visual
    Track controls
    Track settings

    Sequence always visible; unchecked tracks are omitted from the plot.

    Visual — WT Aligned diff band · WT disorder (DisCanVis)
    Visual — Mutant Aligned diff band · no mutant disorder unless length matches WT vector
    Comparison
    No comparison loaded.
    Changed segment(s)
    —
    ELM regex — predictions per sequence

    Catalog regex hits per sequence — disorder-filtered when a combined-disorder vector is available (same ≥60% rule as the plot).

    ELM — gain / loss (WT vs MT)
    De novo vs lost — disorder-filtered when combined vector exists
    Load WT + mutant to compare…
    Structural & clinical context