REV3L R1970H - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

REV3L R1970H

(REV3L Arg1970His)


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

  • T @ chr6:111689082: 0.9% (98/10758) in EVS
  • T @ chr6:111795774: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 0.9% (98/10758)

Publications
 

Genomes
 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het T @ chr6:111689082

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr6:111795775

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr6:111795775

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr6:111795775

 

Other external references
 

    dbSNP
  • rs3218606
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (19 hits -- see all)
  • REV3L Gene - GeneCards | DPOLZ Protein | DPOLZ Antibody
    REV3L Gene in genomic location: bands according to Ensembl, locations ... Recombinant Proteins from Abcam (REV3L) Human Recombinant Proteins from Abnova (REV3L) ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=REV3L
  • Functional nonsynonymous single nucleotide polymorphisms from ...
    REV3L. rs3218599. NP_002903.1. 1 and 2. D1734H. D. H residue creates S1735 in QSLHSANTS. REV3L ... removes S1142 in EKGTSRKHI. REV3L. rs3218606. NP_002903.1. 1. R1892H. R ...
    physiolgenomics.physiology.org/cgi/content/full/29/2/109/T3
  • DNA polymerase zeta catalytic subunit - Homo sapiens (Human)
    REV3L. Synonyms: POLZ, REV3. Organism. Homo sapiens (Human) [Complete ... splicing, genomic structure, and fine chromosome localization of REV3L. ...
    www.uniprot.org/uniprot/O60673
  • Sevtap Savas, Ian W. Taylor, Jeff L. Wrana and Hilmi Ozcelik
    REV3L-R1892H, and SNX1-D466N are predicted to alter two. motifs and phosphorylation sites ... REV3L. rs3218606. NP_002903.1. 1. R1892H. R. H residue removes Intersectin ...
    physiolgenomics.physiology.org/cgi/reprint/29/2/109.pdf
  • nsSNP-phase1-to-3-support.tab
    18 phase1and2 g173761 rs7236891 8535785 1 A/G no ENSG00000182579 Q5T931. ... 18 phase1and2 g173763 rs1965665 8774612 1 A/G no ENSG00000168502 KIAA0802. ...
    www-gene.cimr.cam.ac.uk/todd/public_data/...
  • .:: repairsnps ::.
    Search results for 'REV3L': Gene: REV3L. Name: REV3-like, catalytic subunit of DNA ... rs3218606. NP_002903. G>A. R>H. aa-position:1892 [ SNP analysis ] 5 ...
    dna.uio.no/repairSNP/getsnps.php?gene=REV3L
  • .:: repairsnps ::.
    Results for non-synonymous SNP at position 1892 in REV3L (NP_002903) ... rs3218606. RefSeq ID. NP_002903 [ View FASTA sequence ] Reference allele. G. Non-synonymous ...
    dna.uio.no/repairSNP/snp_details.php?rsid=rs3218606&...
  • HMDB01532.txt
    ... REV3L # Metabolic_Enzyme_1_Protein_Sequence: >DNA polymerase zeta catalytic ... rs3204953; rs3218578; rs3218597; rs3218606; rs7356934; rs458486; rs455732; ...
    wishart.biology.ualberta.ca/polysearch/.../HMDB01532.txt
  • HMDB01342.txt
    ... TTP; thymidine triphosphate; thymidine 5'-triphosphate; dTTP; Thymidine ... Deoxy-TTP; Deoxythymidine 5'-triphosphate; Deoxythymidine triphosphate; TTP ...
    wishart.biology.ualberta.ca/polysearch/.../HMDB01342.txt
  • HMDB01532.txt
    ... 5'-DATP; Deoxyadenosine 5'-triphosphate; Deoxyadenosine triphosphate; dATP ... rs3204953; rs3218578; rs3218597; rs3218606; rs7356934; rs458486; rs455732; ...
    wks16338.biology.ualberta.ca/~dean/polyomx/.../HMDB01532.txt

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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