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Gene MSH6
Variant L681F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 L681F lies within the connector domain of the Msh6 protein (PMID: 17531815). L681F has been identified in sequencing studies (PMID: 22980975, PMID: 25344691), 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 L681F

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Transcript NM_000179.3
gDNA chr2:g.47800024C>T
cDNA c.2041C>T
Protein p.L681F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001281492.2 chr2:g.47800414C>T c.2041C>T p.L681F RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47800024C>T c.2041C>T p.L681F RefSeq GRCh38/hg38
NM_001281492 chr2:g.47800414C>T c.2041C>T p.L681F RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47800024C>T c.2041C>T p.L681F RefSeq GRCh38/hg38
NM_001281492.1 chr2:g.47800414C>T c.2041C>T p.L681F RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47800024C>T c.2041C>T p.L681F RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47800024C>T c.2041C>T p.L681F RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47800024C>T c.2041C>T p.L681F RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47800024C>T c.2041C>T p.L681F RefSeq GRCh38/hg38
NM_000179 chr2:g.47800024C>T c.2041C>T p.L681F RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47800024C>T c.2041C>T p.L681F RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47800024C>T c.2041C>T p.L681F RefSeq GRCh38/hg38
NM_001406813.1 chr2:g.47800020G>T c.2043G>T p.L681F RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47800024C>T c.2041C>T p.L681F RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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