KRTAP3-2 R27C - GET-Evidence

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

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(KRTAP3-2 Arg27Cys)

You are viewing an old version of this page that was saved on June 22, 2011 at 11:37pm by Genome Importing Robot.

Short summary


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


Insufficiently evaluated not reviewed

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

Inheritance pattern


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)



hu04FD18 - CGI sample GS00253-DNA_F01_200_37
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


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




Deleted in this revision:



Other external references

  • rs3829598
  • 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) ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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