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Gene MSH6
Variant R128H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 R128H lies within the PWWP domain of the Msh6 protein (UniProt.org). R128H has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 R128H

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Transcript NM_000179.3
gDNA chr2:g.47791049G>A
cDNA c.383G>A
Protein p.R128H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000179.2 chr2:g.47791049G>A c.383G>A p.R128H RefSeq GRCh38/hg38
NM_001407362.1 chr2:g.47791049G>A c.383G>A p.R128H RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47791049G>A c.383G>A p.R128H RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47791049G>A c.383G>A p.R128H RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47791049G>A c.383G>A p.R128H RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47791049G>A c.383G>A p.R128H RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47791049G>A c.383G>A p.R128H RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47791049G>A c.383G>A p.R128H RefSeq GRCh38/hg38
NM_000179 chr2:g.47791049G>A c.383G>A p.R128H RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47791049G>A c.383G>A p.R128H RefSeq GRCh38/hg38
NM_001406813.1 chr2:g.47791049G>A c.383G>A p.R128H RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47791049G>A c.383G>A p.R128H RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47791049G>A c.383G>A p.R128H RefSeq GRCh38/hg38

Filtering

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