Varaico: Literature-Extracted Genetic Variants

Gene:RFX7
Variant:p.P950H

RFX7

56 papers

RefSeq Summary

RFX7 is a member of the regulatory factor X (RFX) family of transcription factors (see RFX1, MIM 600006) (Aftab et al., 2008 [PubMed 18673564]).[supplied by OMIM, Mar 2009].

Pfam Domains

RFX5_Naa 43–100UCSCRFX5 N-terminal domain
RFX_DNA_bindingaa 105–183UCSCRFX DNA-binding domain

Gene Aliases

HGNC Name

regulatory factor X7

HGNC Previous Symbol

RFXDC2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022841.7
p.P950H
c.2849C>A
Surrounding Variants
2 papers
NM_022841.7
p.P948H
c.2843C>A
2 papers
NM_022841.7
p.T953_T955del0
c.2859_2864del6
1 paper
NM_022841.7
p.T953_T955del3
c.2857_2864del9
1 paper
NM_022841.7
p.G942D
c.2825G>A
1 paper
NM_022841.7
p.P962_P964ins1
c.2886_2891dup6
1 paper
NM_022841.7
p.A970fs
c.2908_2909fs
1 paper
NM_022841.7
p.I969_A970insFs
c.2905_2908dup4
1 paper
NM_022841.7
p.S918fs
c.2752_2753fs
1 paper
NM_022841.7
p.Q917insFs
c.2750dupA
1 paper
NM_022841.7
p.C909_L910insFs
c.2727_2730dup4
1 paper
NM_022841.7
p.Y906*
c.2718C>G
1 paper
NM_022841.7
p.Y906*
c.2718C>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."