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Gene | MSH6 |
Variant | S360I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MSH6 S360I lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). S360I is predicted to have no effect on Msh6 protein function by computational analysis (PMID: 23621914), 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 S360I |
Transcript | NM_000179.3 |
gDNA | chr2:g.47799062G>T |
cDNA | c.1079G>T |
Protein | p.S360I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406802.1 | chr2:g.47798966G>T | c.1079G>T | p.S360I | RefSeq | GRCh38/hg38 |
NM_001406798.1 | chr2:g.47799062G>T | c.1079G>T | p.S360I | RefSeq | GRCh38/hg38 |
NM_001406819.1 | chr2:g.47799358_47799359delTCinsAT | c.1078_1079delTCinsAT | p.S360I | RefSeq | GRCh38/hg38 |
NM_001406796.1 | chr2:g.47799062G>T | c.1079G>T | p.S360I | RefSeq | GRCh38/hg38 |
NM_001406795.1 | chr2:g.47798966G>T | c.1079G>T | p.S360I | RefSeq | GRCh38/hg38 |
NM_001406827.1 | chr2:g.47799358_47799359delTCinsAT | c.1078_1079delTCinsAT | p.S360I | RefSeq | GRCh38/hg38 |
NM_001406824.1 | chr2:g.47799358_47799359delTCinsAT | c.1078_1079delTCinsAT | p.S360I | RefSeq | GRCh38/hg38 |
NM_001406800.1 | chr2:g.47799062G>T | c.1079G>T | p.S360I | RefSeq | GRCh38/hg38 |
NM_000179 | chr2:g.47799062G>T | c.1079G>T | p.S360I | RefSeq | GRCh38/hg38 |
NM_001406801.1 | chr2:g.47799358_47799359delTCinsAT | c.1078_1079delTCinsAT | p.S360I | RefSeq | GRCh38/hg38 |
NM_000179.3 | chr2:g.47799062G>T | c.1079G>T | p.S360I | RefSeq | GRCh38/hg38 |
NM_001406828.1 | chr2:g.47799358_47799359delTCinsAT | c.1078_1079delTCinsAT | p.S360I | RefSeq | GRCh38/hg38 |
NM_001406809.1 | chr2:g.47799062G>T | c.1079G>T | p.S360I | RefSeq | GRCh38/hg38 |
NM_001406797.1 | chr2:g.47799358_47799359delTCinsAT | c.1078_1079delTCinsAT | p.S360I | RefSeq | GRCh38/hg38 |
NM_001406818.1 | chr2:g.47799358_47799359delTCinsAT | c.1078_1079delTCinsAT | p.S360I | RefSeq | GRCh38/hg38 |
NM_001406803.1 | chr2:g.47799062G>T | c.1079G>T | p.S360I | RefSeq | GRCh38/hg38 |
NM_001406821.1 | chr2:g.47799358_47799359delTCinsAT | c.1078_1079delTCinsAT | p.S360I | RefSeq | GRCh38/hg38 |
NM_000179.2 | chr2:g.47799062G>T | c.1079G>T | p.S360I | RefSeq | GRCh38/hg38 |
NM_001406805.1 | chr2:g.47799358_47799359delTCinsAT | c.1078_1079delTCinsAT | p.S360I | RefSeq | GRCh38/hg38 |
NM_001406820.1 | chr2:g.47799358_47799359delTCinsAT | c.1078_1079delTCinsAT | p.S360I | RefSeq | GRCh38/hg38 |
XM_024452819.1 | chr2:g.47799062G>T | c.1079G>T | p.S360I | RefSeq | GRCh38/hg38 |
XM_011532799 | chr2:g.47799358_47799359delTCinsAT | c.1078_1079delTCinsAT | p.S360I | RefSeq | GRCh38/hg38 |
NM_001406817.1 | chr2:g.47799062G>T | c.1079G>T | p.S360I | RefSeq | GRCh38/hg38 |
NM_001406808.1 | chr2:g.47799062G>T | c.1079G>T | p.S360I | RefSeq | GRCh38/hg38 |
NM_001406825.1 | chr2:g.47799358_47799359delTCinsAT | c.1078_1079delTCinsAT | p.S360I | RefSeq | GRCh38/hg38 |
XM_024452821.1 | chr2:g.47799358_47799359delTCinsAT | c.1078_1079delTCinsAT | p.S360I | RefSeq | GRCh38/hg38 |
NM_001406822.1 | chr2:g.47799358_47799359delTCinsAT | c.1078_1079delTCinsAT | p.S360I | RefSeq | GRCh38/hg38 |
NM_001406830.1 | chr2:g.47799358_47799359delTCinsAT | c.1078_1079delTCinsAT | p.S360I | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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