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Gene | MSH6 |
Variant | T1142M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MSH6 T1142M lies within the ATPase domain of the Msh6 protein (PMID: 17531815). T1142M was not identified to interfere with Msh6 mismatch repair activity in a functional screen in mouse cells (PMID: 28531214), but has not been fully biochemically characterized and therefore, its effect on Msh6 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
MSH6 mutant MSH6 T1142M |
Transcript | NM_000179.3 |
gDNA | chr2:g.47803672C>T |
cDNA | c.3425C>T |
Protein | p.T1142M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406808.1 | chr2:g.47803672C>T | c.3425C>T | p.T1142M | RefSeq | GRCh38/hg38 |
NM_001406800.1 | chr2:g.47803672C>T | c.3425C>T | p.T1142M | RefSeq | GRCh38/hg38 |
NM_001406804.1 | chr2:g.47804974_47804975delCAinsTG | c.3425_3426delCAinsTG | p.T1142M | RefSeq | GRCh38/hg38 |
NM_001406796.1 | chr2:g.47803672C>T | c.3425C>T | p.T1142M | RefSeq | GRCh38/hg38 |
NM_001406809.1 | chr2:g.47803672C>T | c.3425C>T | p.T1142M | RefSeq | GRCh38/hg38 |
NM_000179.2 | chr2:g.47803672C>T | c.3425C>T | p.T1142M | RefSeq | GRCh38/hg38 |
XM_024452819.1 | chr2:g.47803672C>T | c.3425C>T | p.T1142M | RefSeq | GRCh38/hg38 |
NM_000179.3 | chr2:g.47803672C>T | c.3425C>T | p.T1142M | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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