Varaico: Literature-Extracted Genetic Variants

Gene:RFX2
Variant:p.E211V

RFX2

51 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 4–154UCSCRFX1 transcription activation region
RFX_DNA_bindingaa 197–274UCSCRFX DNA-binding domain
RFX_DNA_bindingaa 197–274UCSCRFX DNA-binding domain
BCD_RFXaa 369–660UCSCRFX BCD domain

Gene Aliases

HGNC Name

regulatory factor X2

HGNC Alias Symbol

FLJ14226

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000635.4
p.E211V
c.632A>T
Surrounding Variants
1 paper
NM_000635.4
p.V213M
c.637G>A
1 paper
NM_000635.4
p.E208E
c.624A>G
1 paper
NM_000635.4
p.D205G
c.614A>G
1 paper
NM_000635.4
p.S219Y
c.656C>A
1 paper
NM_000635.4
p.L220F
c.658C>T
1 paper
NM_000635.4
p.L200F
c.598C>T
1 paper
NM_000635.4
p.N222K
c.666C>G
1 paper
NM_000635.4
p.N222K
c.666C>A
1 paper
NM_000635.4
p.Y224C
c.671A>G
1 paper
NM_000635.4
p.R226W
c.676C>T
1 paper
NM_000635.4
p.R226_H227delFs
c.678_681del4
1 paper
NM_000635.4
p.A238T
c.712G>A
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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."