Varaico: Literature-Extracted Genetic Variants

Gene:RFX3
Variant:p.T123I

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.T123I
c.368C>T
Surrounding Variants
1 paper
NM_001282116.2
p.V122I
c.364G>A
1 paper
NM_001282116.2
p.M112insFs
c.335_336insA
4 papers
NM_001282116.2
p.Y135D
c.403T>G
1 paper
NM_001282116.2
p.V107A
c.320T>C
1 paper
NM_001282116.2
p.M141V
c.421A>G
1 paper
NM_001282116.2
p.A101T
c.301G>A
1 paper
NM_001282116.2
p.T151A
c.451A>G
1 paper
NM_001282116.2
p.T76M
c.227C>T
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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."