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Gene | MSH6 |
Variant | K1013N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MSH6 K1013N lies within the lever domain of the Msh2 protein (PMID: 17531815). K1013N has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
MSH6 mutant MSH6 K1013N |
Transcript | NM_000179.3 |
gDNA | chr2:g.47801022G>C |
cDNA | c.3039G>C |
Protein | p.K1013N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406814.1 | chr2:g.47806595G>C | c.3039G>C | p.K1013N | RefSeq | GRCh38/hg38 |
NM_001406816.1 | chr2:g.47806595G>C | c.3039G>C | p.K1013N | RefSeq | GRCh38/hg38 |
NM_001406800.1 | chr2:g.47801022G>C | c.3039G>C | p.K1013N | RefSeq | GRCh38/hg38 |
NM_001281494.1 | chr2:g.47806595G>C | c.3039G>C | p.K1013N | RefSeq | GRCh38/hg38 |
NM_001281493.2 | chr2:g.47806595G>C | c.3039G>C | p.K1013N | RefSeq | GRCh38/hg38 |
NM_001406812.1 | chr2:g.47806595G>C | c.3039G>C | p.K1013N | RefSeq | GRCh38/hg38 |
NM_001281494 | chr2:g.47806595G>C | c.3039G>C | p.K1013N | RefSeq | GRCh38/hg38 |
NM_000179 | chr2:g.47801022G>C | c.3039G>C | p.K1013N | RefSeq | GRCh38/hg38 |
NM_001406809.1 | chr2:g.47801022G>C | c.3039G>C | p.K1013N | RefSeq | GRCh38/hg38 |
NM_000179.2 | chr2:g.47801022G>C | c.3039G>C | p.K1013N | RefSeq | GRCh38/hg38 |
NM_001281493.1 | chr2:g.47806595G>C | c.3039G>C | p.K1013N | RefSeq | GRCh38/hg38 |
NM_001406796.1 | chr2:g.47801022G>C | c.3039G>C | p.K1013N | RefSeq | GRCh38/hg38 |
NM_001406815.1 | chr2:g.47806595G>C | c.3039G>C | p.K1013N | RefSeq | GRCh38/hg38 |
NM_001406798.1 | chr2:g.47801022G>C | c.3039G>C | p.K1013N | RefSeq | GRCh38/hg38 |
XM_024452819.1 | chr2:g.47801022G>C | c.3039G>C | p.K1013N | RefSeq | GRCh38/hg38 |
NM_001281493 | chr2:g.47806595G>C | c.3039G>C | p.K1013N | RefSeq | GRCh38/hg38 |
NM_001281494.2 | chr2:g.47806595G>C | c.3039G>C | p.K1013N | RefSeq | GRCh38/hg38 |
NM_001406829.1 | chr2:g.47806595G>C | c.3039G>C | p.K1013N | RefSeq | GRCh38/hg38 |
NM_001406823.1 | chr2:g.47806595G>C | c.3039G>C | p.K1013N | RefSeq | GRCh38/hg38 |
NM_001406808.1 | chr2:g.47801022G>C | c.3039G>C | p.K1013N | RefSeq | GRCh38/hg38 |
NM_001406811.1 | chr2:g.47806595G>C | c.3039G>C | p.K1013N | RefSeq | GRCh38/hg38 |
NM_000179.3 | chr2:g.47801022G>C | c.3039G>C | p.K1013N | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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