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Gene | ARID2 |
Variant | R314C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ARID2 R314C lies within the LXXLL motif of the Arid2 protein (UniProt.org). R314C has been identified in sequencing studies (PMID: 26950094, PMID: 27149842, PMID: 31745173), but has not been biochemically characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ARID2 mutant ARID2 R314C |
Transcript | NM_152641.4 |
gDNA | chr12:g.45836908C>T |
cDNA | c.940C>T |
Protein | p.R314C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_152641.3 | chr12:g.45836908C>T | c.940C>T | p.R314C | RefSeq | GRCh38/hg38 |
XM_006719272.4 | chr12:g.45836908C>T | c.940C>T | p.R314C | RefSeq | GRCh38/hg38 |
NM_152641.4 | chr12:g.45836908C>T | c.940C>T | p.R314C | RefSeq | GRCh38/hg38 |
XM_047428489.1 | chr12:g.45836908C>T | c.940C>T | p.R314C | RefSeq | GRCh38/hg38 |
NM_001347839.1 | chr12:g.45836908C>T | c.940C>T | p.R314C | RefSeq | GRCh38/hg38 |
NM_001347839.2 | chr12:g.45836908C>T | c.940C>T | p.R314C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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