REV3L R1970H - GET-Evidence

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

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REV3L R1970H

(REV3L Arg1970His)

You are viewing the latest version of this page, saved on November 29, 2012 at 4:06am 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

  • 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)



Added in this revision:

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

  • rs3218606
  • 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) ...
  • 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 ...
  • 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. ...
  • 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 ...
    18 phase1and2 g173761 rs7236891 8535785 1 A/G no ENSG00000182579 Q5T931. ... 18 phase1and2 g173763 rs1965665 8774612 1 A/G no ENSG00000168502 KIAA0802. ...
  • .:: 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 ...
  • .:: 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 ...
  • HMDB01532.txt
    ... REV3L # Metabolic_Enzyme_1_Protein_Sequence: >DNA polymerase zeta catalytic ... rs3204953; rs3218578; rs3218597; rs3218606; rs7356934; rs458486; rs455732; ...
  • HMDB01342.txt
    ... TTP; thymidine triphosphate; thymidine 5'-triphosphate; dTTP; Thymidine ... Deoxy-TTP; Deoxythymidine 5'-triphosphate; Deoxythymidine triphosphate; TTP ...
  • HMDB01532.txt
    ... 5'-DATP; Deoxyadenosine 5'-triphosphate; Deoxyadenosine triphosphate; dATP ... rs3204953; rs3218578; rs3218597; rs3218606; rs7356934; rs458486; rs455732; ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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