DOK3 G22R - GET-Evidence

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

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(DOK3 Gly22Arg)

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

  • T @ chr5:176936646: 2.7% (288/10754) in EVS
  • T @ chr5:176869251: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 2.7% (288/10754)



huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr5:176936646


GS18501 - var-GS18501-1100-36-ASM
het T @ chr5:176869252


GS18517 - var-GS18517-1100-36-ASM
het T @ chr5:176869252


GS19704 - var-GS19704-1100-36-ASM
het T @ chr5:176869252


Other external references

  • rs41275297
  • Score: 0.979 (probably damaging)
    Web search results (2 hits -- see all)
  • Docking protein 3 - Homo sapiens (Human)
    DOK3 is a negative regulator of JNK signaling in B-cells through interaction ... 1. G R: dbSNP rs41275297. VAR_062002. Experimental info. Sequence ...
  • UniProt: DOK3_HUMAN
    DOK3 is a negative CC regulator of JNK signaling in B-cells through interaction ... DR CTD; 79930; -. DR GeneCards; GC05M176861; -. DR HGNC; HGNC:24583; DOK3. ...

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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