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Gene MSH6
Variant K1014del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions MSH6 K1014del results in the deletion of an amino acid in the lever domain of the Msh6 protein at amino acid 1014 (PMID: 17531815). K1014del has been identified in the scientific literature (PMID: 29875428, PMID: 36260514), 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 K1014del

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Transcript NM_000179.3
gDNA chr2:g.47801023_47801025delAAG
cDNA c.3040_3042delAAG
Protein p.K1014delK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406811.1 chr2:g.47806596_47806598delGGA c.3040_3042delGGA p.G1014delG RefSeq GRCh38/hg38
NM_001406814.1 chr2:g.47806596_47806598delGGA c.3040_3042delGGA p.G1014delG RefSeq GRCh38/hg38
NM_001406820.1 chr2:g.47803584_47803586delATT c.3040_3042delATT p.I1014delI RefSeq GRCh38/hg38
NM_001406807.1 chr2:g.47805626_47805628delACA c.3040_3042delACA p.T1014delT RefSeq GRCh38/hg38
NM_001406805.1 chr2:g.47803584_47803586delATT c.3040_3042delATT p.I1014delI RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47801023_47801025delAAG c.3040_3042delAAG p.K1014delK RefSeq GRCh38/hg38
NM_001406828.1 chr2:g.47803584_47803586delATT c.3040_3042delATT p.I1014delI RefSeq GRCh38/hg38
NM_001406823.1 chr2:g.47806596_47806598delGGA c.3040_3042delGGA p.G1014delG RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47801023_47801025delAAG c.3040_3042delAAG p.K1014del RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47801023_47801025delAAG c.3040_3042delAAG p.K1014del RefSeq GRCh38/hg38
NM_001281492.2 chr2:g.47803678_47803680delTGA c.3041_3043delTGA p.M1014delM RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47801023_47801025delAAG c.3040_3042delAAG p.K1014delK RefSeq GRCh38/hg38
NM_001406827.1 chr2:g.47803584_47803586delATT c.3040_3042delATT p.I1014delI RefSeq GRCh38/hg38
NM_001406804.1 chr2:g.47801101_47801103delTTT c.3040_3042delTTT p.F1014delF RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47801023_47801025delAAG c.3040_3042delAAG p.K1014delK RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47801023_47801025delAAG c.3040_3042delAAG p.K1014delK RefSeq GRCh38/hg38
NM_001406806.1 chr2:g.47805626_47805628delACA c.3040_3042delACA p.T1014delT RefSeq GRCh38/hg38
NM_001406826.1 chr2:g.47803456_47803458delGTG c.3041_3043delGTG p.G1014delG RefSeq GRCh38/hg38
NM_001406824.1 chr2:g.47803584_47803586delATT c.3040_3042delATT p.I1014delI RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47801023_47801025delAAG c.3040_3042delAAG p.K1014delK RefSeq GRCh38/hg38
NM_001406812.1 chr2:g.47806596_47806598delGGA c.3040_3042delGGA p.G1014delG RefSeq GRCh38/hg38
NM_001406815.1 chr2:g.47806596_47806598delGGA c.3040_3042delGGA p.G1014delG RefSeq GRCh38/hg38
NM_001281494.2 chr2:g.47806596_47806598delGGA c.3040_3042delGGA p.G1014delG RefSeq GRCh38/hg38
NM_001406802.1 chr2:g.47800927_47800929delCCT c.3040_3042delCCT p.P1014delP RefSeq GRCh38/hg38
NM_001406801.1 chr2:g.47803584_47803586delATT c.3040_3042delATT p.I1014delI RefSeq GRCh38/hg38
NM_001406816.1 chr2:g.47806596_47806598delGGA c.3040_3042delGGA p.G1014delG RefSeq GRCh38/hg38
NM_001406819.1 chr2:g.47803584_47803586delATT c.3040_3042delATT p.I1014delI RefSeq GRCh38/hg38
NM_001406813.1 chr2:g.47801017_47801019delGAA c.3040_3042delGAA p.E1014delE RefSeq GRCh38/hg38
NM_001406797.1 chr2:g.47803584_47803586delATT c.3040_3042delATT p.I1014delI RefSeq GRCh38/hg38
NM_001406818.1 chr2:g.47803584_47803586delATT c.3040_3042delATT p.I1014delI RefSeq GRCh38/hg38
NM_001406821.1 chr2:g.47803584_47803586delATT c.3040_3042delATT p.I1014delI RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47801023_47801025delAAG c.3040_3042delAAG p.K1014delK RefSeq GRCh38/hg38
NM_001406830.1 chr2:g.47803584_47803586delATT c.3040_3042delATT p.I1014delI RefSeq GRCh38/hg38
NM_001406799.1 chr2:g.47805626_47805628delACA c.3040_3042delACA p.T1014delT RefSeq GRCh38/hg38
NM_001406825.1 chr2:g.47803584_47803586delATT c.3040_3042delATT p.I1014delI RefSeq GRCh38/hg38
NM_001406795.1 chr2:g.47800927_47800929delCCT c.3040_3042delCCT p.P1014delP RefSeq GRCh38/hg38
NM_001406822.1 chr2:g.47803584_47803586delATT c.3040_3042delATT p.I1014delI RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47806557_47806559delGCA c.3043_3045delGCA p.A1015delA RefSeq GRCh38/hg38
NM_001281493.2 chr2:g.47806596_47806598delGGA c.3040_3042delGGA p.G1014delG RefSeq GRCh38/hg38
NM_001406829.1 chr2:g.47806596_47806598delGGA c.3040_3042delGGA p.G1014delG RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References