Varaico: Literature-Extracted Genetic Variants

Gene:RFX3
Variant:p.Q39*

RFX3

65 papers

RefSeq Summary

This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is s...

Pfam Domains

RFX1_trans_actaa 12–138UCSCRFX1 transcription activation region
RFX_DNA_bindingaa 181–258UCSCRFX DNA-binding domain
BCD_RFXaa 353–645UCSCRFX BCD domain

Gene Aliases

HGNC Name

regulatory factor X3

HGNC Previous Name

regulatory factor X, 3 (influences HLA class II expression)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001282116.2
p.Q39*
c.115C>T
Surrounding Variants
1 paper
NM_001282116.2
p.T18P
c.52A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."