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Gene | ARID1A |
Variant | P20_P21dup |
Impact List | duplication |
Protein Effect | loss of function |
Gene Variant Descriptions | ARID1A P20_P21dup (also reported as P16_P17dup) indicates the insertion of 2 duplicate amino acids, proline (P)-20 through proline (P)-21, in the Arid1a protein (UniProt.org). P20_P21dup (reported as P16_P17dup) leads to a loss of Arid1a function as indicated by reduced Cdkn1a expression and uninhibited cell growth in culture (PMID: 23097632). |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A inact mut ARID1A P20_P21dup |
Transcript | NM_006015.6 |
gDNA | chr1:g.26696461_26696466 |
cDNA | c.58_63 |
Protein | p.P20_P21 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_139135 | chr1:g.26696461_26696466 | c.58_63 | p.P20_P21 | RefSeq | GRCh38/hg38 |
NM_006015 | chr1:g.26696460_26696465dupGCCGCC | c.57_62dupGCCGCC | p.P20_P21dup | RefSeq | hg38 |
NM_006015.5 | chr1:g.26696461_26696466 | c.58_63 | p.P20_P21 | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.26696461_26696466 | c.58_63 | p.P20_P21 | RefSeq | GRCh38/hg38 |
NM_139135.3 | chr1:g.26696461_26696466 | c.58_63 | p.P20_P21 | RefSeq | GRCh38/hg38 |
NM_006015 | chr1:g.26696461_26696466 | c.58_63 | p.P20_P21 | RefSeq | GRCh38/hg38 |
NM_139135.4 | chr1:g.26696461_26696466 | c.58_63 | p.P20_P21 | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ARID1A P20_P21dup | loss of function | EZH2 inhibitor |