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Gene ARID1B
Variant P417Rfs*13
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ARID1B P417Rfs*13 indicates a shift in the reading frame starting at amino acid 417 and terminating 13 residues downstream causing a premature truncation of the 2236 amino acid Arid1b protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), P417Rfs*13 is predicted to lead to a loss of Arid1b protein function.
Associated Drug Resistance
Category Variants Paths

ARID1B mutant ARID1B inact mut ARID1B P417Rfs*13

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Transcript NM_017519.2
gDNA chr6:g.156779179delC
cDNA c.1250delC
Protein p.P417Rfs*13
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017011103.2 chr6:g.156779179delC c.1250delC p.P417Rfs*13 RefSeq GRCh38/hg38
XM_017011104.1 chr6:g.156779179delC c.1250delC p.P417Rfs*13 RefSeq GRCh38/hg38
XM_011535984.2 chr6:g.156779179delC c.1250delC p.P417Rfs*13 RefSeq GRCh38/hg38
XM_011535988.4 chr6:g.157196290_157196291insGCCCAAA c.1249_1250insGCCCAAA p.P417Rfs*13 RefSeq GRCh38/hg38
NM_020732.3 chr6:g.156779179delC c.1250delC p.P417Rfs*13 RefSeq GRCh38/hg38
XM_017011105.2 chr6:g.156779179delC c.1250delC p.P417Rfs*13 RefSeq GRCh38/hg38
NM_001346813.1 chr6:g.156779179delC c.1250delC p.P417Rfs*13 RefSeq GRCh38/hg38
NM_017519.2 chr6:g.156779179delC c.1250delC p.P417Rfs*13 RefSeq GRCh38/hg38
XM_017011106.2 chr6:g.156779179delC c.1250delC p.P417Rfs*13 RefSeq GRCh38/hg38
XM_017011107.2 chr6:g.156779179delC c.1250delC p.P417Rfs*13 RefSeq GRCh38/hg38
XM_047419156.1 chr6:g.(157200741_157200782) c.(1249_1290) p.P417Rfs*13 RefSeq GRCh38/hg38

Filtering

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries