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Gene KEAP1
Variant R320M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KEAP1 R320M does not lie within any known functional domains of the Keap1 protein (UniProt.org). R320M has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Keap1 protein function is unknown (PubMed, Nov 2023).
Associated Drug Resistance
Category Variants Paths

KEAP1 mutant KEAP1 R320M

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Transcript NM_203500.2
gDNA chr19:g.10491943_10491944delCGinsAT
cDNA c.958_959delCGinsAT
Protein p.R320M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_012289.4 chr19:g.10491943_10491944delCGinsAT c.958_959delCGinsAT p.R320M RefSeq GRCh38/hg38
XM_011528452.1 chr19:g.10491943_10491944delCGinsAT c.958_959delCGinsAT p.R320M RefSeq GRCh38/hg38
NM_203500 chr19:g.10491943_10491944delCGinsAT c.958_959delCGinsAT p.R320M RefSeq GRCh38/hg38
XM_011528452 chr19:g.10491943_10491944delCGinsAT c.958_959delCGinsAT p.R320M RefSeq GRCh38/hg38
XM_005260174 chr19:g.10491943_10491944delCGinsAT c.958_959delCGinsAT p.R320M RefSeq GRCh38/hg38
XM_005260173 chr19:g.10491943_10491944delCGinsAT c.958_959delCGinsAT p.R320M RefSeq GRCh38/hg38
NM_203500.2 chr19:g.10491943_10491944delCGinsAT c.958_959delCGinsAT p.R320M RefSeq GRCh38/hg38
NM_203500.1 chr19:g.10491943_10491944delCGinsAT c.958_959delCGinsAT p.R320M RefSeq GRCh38/hg38
XM_005260173.1 chr19:g.10491943_10491944delCGinsAT c.958_959delCGinsAT p.R320M RefSeq GRCh38/hg38
XM_005260174.1 chr19:g.10491943_10491944delCGinsAT c.958_959delCGinsAT p.R320M RefSeq GRCh38/hg38
NM_012289 chr19:g.10491943_10491944delCGinsAT c.958_959delCGinsAT p.R320M RefSeq GRCh38/hg38
NM_012289.3 chr19:g.10491943_10491944delCGinsAT c.958_959delCGinsAT p.R320M 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