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Gene | MSH6 |
Variant | A1204E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MSH6 A1204E lies within the ATPase domain of the Msh6 protein (PMID: 17531815). A1204E has been identified in sequencing studies (PMID: 22832583), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
MSH6 mutant MSH6 A1204E |
Transcript | NM_000179.3 |
gDNA | chr2:g.47805672C>A |
cDNA | c.3611C>A |
Protein | p.A1204E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406818.1 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
XM_024452819.1 | chr2:g.47805672C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
NM_001406825.1 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
NM_001406824.1 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
NM_000179.2 | chr2:g.47805672C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
NM_001406822.1 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
NM_001406805.1 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
NM_001406820.1 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
NM_001406819.1 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
NM_001406830.1 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
NM_001406796.1 | chr2:g.47805672C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
NM_001406828.1 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
XM_011532799 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
NM_001406821.1 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
NM_001406797.1 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
NM_001406800.1 | chr2:g.47805672C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
NM_001406804.1 | chr2:g.47806246C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
NM_001406827.1 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
NM_000179 | chr2:g.47805672C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
NM_001406809.1 | chr2:g.47805672C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
NM_000179.3 | chr2:g.47805672C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
NM_001406808.1 | chr2:g.47805672C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
NM_001406801.1 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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