Cosmic » Mutation » Overview » FGF13 » p.K225K / c.675G>A
Overview
This tab shows an overview of the mutation data [more details]
- Description:
- Mutation id:
- AA Mutation:
- CDS Mutation:
- NCBI 36:
- GRCH 37:
- Cancer Genome Browser:
- CDD:
- Homologene:
- Ever confirmed somatic:
- FGF13
- COSM81185
- p.K225K ( Substitution - coding silent )
- c.675G>A ( Substitution )
- Ensembl Contig View: X: 137542740..137542740
- Ensembl Contig View: X: 137715074..137715074
- COSMIC GBrowse: X: 137715074..137715074
- NP_004105.1
- 3036 , click here to look the multiple sequence alignment.
- Yes
Tissue Distribution
This tab displays the distribution of mutated samples and tissue types.
[more details]
Samples
This tab displays a table of muated samples, with tissue, histology and zygosity information.
Publication information is also included, where available, with links to PUBMED.
[more details]
| Sample name | Gene Name | Transcript | Primary Tissue | Histology | Pubmed Id | Zygosity | Somatic Status |
|---|
Protein features
This tab displays a table of protein features
[more details]
| View | Identifier | Source | Feature | Start | End | Status | Score |
|---|---|---|---|---|---|---|---|
| A8K1P5 | PTHR11486:SF16 | PTHR11486:SF16 | 1 | 245 | Overlap | 100.00 | |
|
FGF13 MAAAIASSLIRQKRQAREREKSNACKCVSSPSKGKTSCDKNKLNVFSRVKLFGSKKRRRR 60
A8K1P5 MAAAIASSLIRQKRQAREREKSNACKCVSSPSKGKTSCDKNKLNVFSRVKLFGSKKRRRR 60
FGF13 RPEPQLKGIVTKLYSRQGYHLQLQADGTIDGTKDEDSTYTLFNLIPVGLRVVAIQGVQTK 120
A8K1P5 RPEPQLKGIVTKLYSRQGYHLQLQADGTIDGTKDEDSTYTLFNLIPVGLRVVAIQGVQTK 120
FGF13 LYLAMNSEGYLYTSELFTPECKFKESVFENYYVTYSSMIYRQQQSGRGWYLGLNKEGEIM 180
A8K1P5 LYLAMNSEGYLYTSELFTPECKFKESVFENYYVTYSSMIYRQQQSGRGWYLGLNKEGEIM 180
FGF13 KGNHVKKNKPAAHFLPKPLKVAMYKEPSLHDLTEFSRSGSGTPTKSRSVSGVLNGGKSMS 240
A8K1P5 KGNHVKKNKPAAHFLPKPLKVAMYKEPSLHDLTEFSRSGSGTPTKSRSVSGVLNGGKSMS 240
FGF13 HNEST
A8K1P5 HNEST
More detailsWildtype Residue : K Mutant Position : 225 Mutant label : p.K225K Feature Name :PTHR11486:SF16( 1- 245 ) | |||||||
| A8K1P5 | PTHR11486 | PTHR11486 | 1 | 245 | Overlap | 100.00 | |
|
FGF13 MAAAIASSLIRQKRQAREREKSNACKCVSSPSKGKTSCDKNKLNVFSRVKLFGSKKRRRR 60
A8K1P5 MAAAIASSLIRQKRQAREREKSNACKCVSSPSKGKTSCDKNKLNVFSRVKLFGSKKRRRR 60
FGF13 RPEPQLKGIVTKLYSRQGYHLQLQADGTIDGTKDEDSTYTLFNLIPVGLRVVAIQGVQTK 120
A8K1P5 RPEPQLKGIVTKLYSRQGYHLQLQADGTIDGTKDEDSTYTLFNLIPVGLRVVAIQGVQTK 120
FGF13 LYLAMNSEGYLYTSELFTPECKFKESVFENYYVTYSSMIYRQQQSGRGWYLGLNKEGEIM 180
A8K1P5 LYLAMNSEGYLYTSELFTPECKFKESVFENYYVTYSSMIYRQQQSGRGWYLGLNKEGEIM 180
FGF13 KGNHVKKNKPAAHFLPKPLKVAMYKEPSLHDLTEFSRSGSGTPTKSRSVSGVLNGGKSMS 240
A8K1P5 KGNHVKKNKPAAHFLPKPLKVAMYKEPSLHDLTEFSRSGSGTPTKSRSVSGVLNGGKSMS 240
FGF13 HNEST
A8K1P5 HNEST
More detailsWildtype Residue : K Mutant Position : 225 Mutant label : p.K225K Feature Name :PTHR11486( 1- 245 ) | |||||||
Pathways Affected
This tab displays a table of pathways affected by the mutation
[more details]
| Source | Pathways |
|---|---|
| Reactome | |
| WikiPathway | Regulation of Actin Cytoskeleton |
References
This tab displays a table of references for the mutation
[more details]
| Reference Title | Author | Year | Journal | Status | COSMIC | Pubmed |
|---|