KRTAP3-2 R27C - GET-Evidence

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

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Curation:
Currentness:

KRTAP3-2 R27C

(KRTAP3-2 Arg27Cys)


Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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

  • A @ chr17:39156027: 13.2% (1416/10750) in EVS
  • A @ chr17:36409552: 15.6% (20/128) in GET-Evidence
  • Frequency shown in summary reports: 13.2% (1416/10750)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr17:39156027

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr17:39156027

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr17:39156027

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr17:39156027

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr17:39156027

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr17:39156027

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr17:39156027

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr17:39156027

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr17:39156027

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr17:39156027

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr17:39156027

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr17:39156027

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr17:39156027

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr17:39156027

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr17:36409553

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr17:36409553

 

GS18526 - var-GS18526-1100-36-ASM
hom A @ chr17:36409553

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr17:36409553

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr17:36409553

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr17:36409553

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr17:36409553

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr17:36409553

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr17:36409553

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr17:36409553

 

Other external references
 

    dbSNP
  • rs3829598
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (2 hits -- see all)
  • Keratin-associated protein 3-2 - Homo sapiens (Human)
    ... KRA32_HUMAN Keratin-associated protein 3-2 OS=Homo sapiens GN=KRTAP3-2 PE=1 SV=1 ... KRTAP3-2. Synonyms: KAP3.2, KRTAP3.2. Organism. Homo sapiens (Human) ...
    www.uniprot.org/uniprot/Q9BYR7
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: KRTAP3-2 ... MutDB MutPred In Silico Functional Profiling PhenoPred S-BLEST CRP Web Services ...
    mutdb.org/cgi-bin/mutdb.pl?id=KRTAP3-2&geneid=83897

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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