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Gene MSH6
Variant D197H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 D197H does not lie within any known functional domains of the Msh6 protein (UniProt.org). D197H has been identified in sequencing studies (PMID: 18948947), 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 D197H

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Transcript NM_000179.3
gDNA chr2:g.47796025G>C
cDNA c.589G>C
Protein p.D197H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000179.3 chr2:g.47796025G>C c.589G>C p.D197H RefSeq GRCh38/hg38
NM_000179 chr2:g.47796025G>C c.589G>C p.D197H RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47796025G>C c.589G>C p.D197H RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47796025G>C c.589G>C p.D197H RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47796025G>C c.589G>C p.D197H RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47796025G>C c.589G>C p.D197H RefSeq GRCh38/hg38
NM_001407362.1 chr2:g.47796025G>C c.589G>C p.D197H RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47796025G>C c.589G>C p.D197H RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47796025G>C c.589G>C p.D197H RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47796025G>C c.589G>C p.D197H RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47796025G>C c.589G>C p.D197H RefSeq GRCh38/hg38
NM_001406826.1 chr2:g.47798740G>C c.589G>C p.D197H RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47796025G>C c.589G>C p.D197H 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 Protein Effect Treatment Approaches
MSH6 D197H unknown