Varaico: Literature-Extracted Genetic Variants

Gene:RFX7
Variant:p.Q746*

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.Q746*
c.2236C>T
Surrounding Variants
1 paper
NM_022841.7
p.E745*
c.2233G>T
1 paper
NM_022841.7
p.S742*
c.2225C>G
1 paper
NM_022841.7
p.S742*
c.2225C>A
1 paper
NM_022841.7
p.G762*
c.2284G>T
1 paper
NM_022841.7
p.S773*
c.2318C>G
1 paper
NM_022841.7
p.S773*
c.2318C>A
1 paper
NM_022841.7
p.A710fs
c.2128_2129fs
2 papers
NM_022841.7
p.A710Fs
c.2128delinsAGFs
1 paper
NM_022841.7
p.A710fs
c.2128_2129fs
1 paper
NM_022841.7
p.T705insFs
c.2113dupA
1 paper
NM_022841.7
p.T705fs
c.2113_2114fs
1 paper
NM_022841.7
p.K695Fs
c.2085delinsAGFs
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