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Gene | MSH6 |
Variant | G93E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MSH6 G93E lies within the PWWP domain of the Msh6 protein (UniProt.org). G93E has been identified in sequencing studies (PMID: 29245953), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
MSH6 mutant MSH6 G93E |
Transcript | NM_000179.3 |
gDNA | chr2:g.47790944G>A |
cDNA | c.278G>A |
Protein | p.G93E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406803.1 | chr2:g.47790944G>A | c.278G>A | p.G93E | RefSeq | GRCh38/hg38 |
NM_001407362.1 | chr2:g.47790944G>A | c.278G>A | p.G93E | RefSeq | GRCh38/hg38 |
NM_001406798.1 | chr2:g.47790944G>A | c.278G>A | p.G93E | RefSeq | GRCh38/hg38 |
NM_001406809.1 | chr2:g.47790944G>A | c.278G>A | p.G93E | RefSeq | GRCh38/hg38 |
NM_001406808.1 | chr2:g.47790944G>A | c.278G>A | p.G93E | RefSeq | GRCh38/hg38 |
NM_001406800.1 | chr2:g.47790944G>A | c.278G>A | p.G93E | RefSeq | GRCh38/hg38 |
NM_000179 | chr2:g.47790944G>A | c.278G>A | p.G93E | RefSeq | GRCh38/hg38 |
NM_001406817.1 | chr2:g.47790944G>A | c.278G>A | p.G93E | RefSeq | GRCh38/hg38 |
NM_000179.3 | chr2:g.47790944G>A | c.278G>A | p.G93E | RefSeq | GRCh38/hg38 |
XM_024452819.1 | chr2:g.47790944G>A | c.278G>A | p.G93E | RefSeq | GRCh38/hg38 |
NM_001406813.1 | chr2:g.47790944G>A | c.278G>A | p.G93E | RefSeq | GRCh38/hg38 |
NM_001406796.1 | chr2:g.47790944G>A | c.278G>A | p.G93E | RefSeq | GRCh38/hg38 |
NM_000179.2 | chr2:g.47790944G>A | c.278G>A | p.G93E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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