CHEK2 R181H - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

CHEK2 R181H

(CHEK2 Arg181His)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    Web search results (11 hits -- see all)
  • OMIM: 604373
    CHEK2 also phosphorylates its own FHA domain, and this modification reduces its ... CHEK2 gene predicted to result in an arg181-to-his (R181H) mutation. ...
    www.genome.jp/dbget-bin/www_bget?omim+604373
  • Core Cell Line Viewer
    See this data integrated into the COSMIC data set. Distribution of somatic mutations in ... p.R181C(1) p.R181H(1) 183. p.S183*(1) p.S183*(1) Insertions. Position ...
    sanger.ac.uk/perl/genetics/CGP/...&end=175&coords=AA:AA
  • Core Cell Line Viewer
    See this data integrated into the COSMIC data set. Distribution of somatic mutations in ... p.R181C(1) p.R181H(1) 183. p.S183*(1) p.S183*(1) Insertions. Position ...
    sanger.ac.uk/perl/genetics/CGP/...&end=184&coords=AA:AA
  • NUCELOTIDE EXCISION REPAIR AND PROSTATE CANCER RISK
    cycle checkpoint due to CHEK2; and base-excision repair (BER) related to XRCC1, ... 26 R181H. M254V. S311C. C529S. E627A. L670F. D1104H. 4150295. 1047769. 2307491 ...
    www1.elsevier.com/homepage/sab/oncoserve/cl_mr/hu.pdf
  • Type II- 95%
    ... CMTX1, moderate 11437164 HSD11B2 P80365 R186C 184 VAR_015637 PKC (0.550) AME 7593417 9661590 PKLR P30613 ... progeroid form 10506123 ARRDC2 Q8TBH0 R181H 185 VAR_026895 PKC (0. ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • OHD - Olomoucké Hematologické dny
    Produktem CHEK2 genu je proteinkináza podílející se na přenosu a ... A (p.R181H), IVS1-5T>A, IVS2+1G>T, IVS2+24C>T] je oblast zahrnující vysoce konzervativní ...
    olhemdny.cz/abstrakta/bysection.php?year[rocnik]=2009&...

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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