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Gene | ARID2 |
Variant | Q1016H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ARID2 Q1016H does not lie within any known functional domains of the Arid2 protein (UniProt.org). Q1016H has been identified in sequencing studies (PMID: 27245685), but has not been biochemically characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ARID2 mutant ARID2 Q1016H |
Transcript | NM_152641.4 |
gDNA | chr12:g.45851171A>T |
cDNA | c.3048A>T |
Protein | p.Q1016H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_152641 | chr12:g.45851171A>T | c.3048A>T | p.Q1016H | RefSeq | GRCh38/hg38 |
XM_006719272 | chr12:g.45851171A>T | c.3048A>T | p.Q1016H | RefSeq | GRCh38/hg38 |
NM_001347839.1 | chr12:g.45851171A>T | c.3048A>T | p.Q1016H | RefSeq | GRCh38/hg38 |
NM_152641.4 | chr12:g.45851171A>T | c.3048A>T | p.Q1016H | RefSeq | GRCh38/hg38 |
XM_047428489.1 | chr12:g.45851171A>T | c.3048A>T | p.Q1016H | RefSeq | GRCh38/hg38 |
NM_001347839.2 | chr12:g.45851171A>T | c.3048A>T | p.Q1016H | RefSeq | GRCh38/hg38 |
XM_006719272.4 | chr12:g.45851171A>T | c.3048A>T | p.Q1016H | RefSeq | GRCh38/hg38 |
NM_152641.3 | chr12:g.45851171A>T | c.3048A>T | p.Q1016H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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