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Gene CHEK2
Variant R180H
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 R180H does not lie within any known functional domains of the Chek2 protein (UniProt.org). R180H results in decreased kinase activity in an in vitro assay (PMID: 22114986), and therefore, is predicted to lead to a loss of Chek2 protein function.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 R180H

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Transcript NM_007194.4
gDNA chr22:g.28725030C>T
cDNA c.539G>A
Protein p.R180H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011529841.1 chr22:g.28725276_28725277delGAinsAT c.539_540delGAinsAT p.R180H RefSeq GRCh38/hg38
NM_001005735 chr22:g.28725276_28725277delTCinsAT c.539_540delGAinsAT p.R180H RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725030C>T c.539G>A p.R180H RefSeq GRCh38/hg38
NM_007194 chr22:g.28725030C>T c.539G>A p.R180H RefSeq GRCh38/hg38
XM_047441105.1 chr22:g.28725276_28725277delGAinsAT c.539_540delGAinsAT p.R180H RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28725030C>T c.539G>A p.R180H RefSeq GRCh38/hg38
NM_001005735.2 chr22:g.28725276_28725277delGAinsAT c.539_540delGAinsAT p.R180H RefSeq GRCh38/hg38
XM_011529841 chr22:g.28725276_28725277delTCinsAT c.539_540delGAinsAT p.R180H RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725030C>T c.539G>A p.R180H RefSeq GRCh38/hg38
NM_145862 chr22:g.28725030C>T c.539G>A p.R180H RefSeq GRCh38/hg38
NM_001005735.1 chr22:g.28725276_28725277delGAinsAT c.539_540delGAinsAT p.R180H RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28725030C>T c.539G>A p.R180H RefSeq GRCh38/hg38

Filtering

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