Varaico: Literature-Extracted Genetic Variants

Gene:RFX7
Variant:p.G531fs

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.G531fs
c.1591_1592fs
Surrounding Variants
1 paper
NM_022841.7
p.S518L
c.1553C>T
1 paper
NM_022841.7
p.Q510H
c.1530G>T
1 paper
NM_022841.7
p.Q510H
c.1530G>C
1 paper
NM_022841.7
p.K594N
c.1782G>T
1 paper
NM_022841.7
p.K594N
c.1782G>C
1 paper
NM_022841.7
p.M467delFs
c.1399_1400delAT
1 paper
NM_022841.7
p.M467fs
c.1399_1400fs
1 paper
NM_022841.7
p.A464T
c.1390G>A
1 paper
NM_022841.7
p.P419L
c.1256C>T
1 paper
NM_022841.7
p.N646T
c.1937A>C
1 paper
NM_022841.7
p.P409L
c.1226C>T
1 paper
NM_022841.7
p.P656S
c.1966C>T
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