Varaico: Literature-Extracted Genetic Variants

RFX1

153 papers

RefSeq Summary

This gene encodes a member of the regulatory factor X (RFX) family of transcription factors, which are characterized by a winged-helix DNA-binding domain. The encoded transcription factor contains an ...

Pfam Domains

RFX1_trans_actaa 214–375UCSCRFX1 transcription activation region

RFX_DNA_bindingaa 435–513UCSCRFX DNA-binding domain

BCD_RFXaa 608–897UCSCRFX BCD domain

Gene Aliases

HGNC Name

regulatory factor X1

HGNC Alias Symbol

EF-C

Papers

RefSeq ID

Protein change

DNA change

1–12 of 112 variants

5 papers

NM_002918.5

p.T370A

c.1108A>G

3 papers

NM_002918.5

p.G409R

c.1225G>C

3 papers

NM_002918.5

p.G409R

c.1225G>A

2 papers

NM_002918.5

p.V102L

c.304G>T

2 papers

NM_002918.5

p.R111Q

c.332G>A

2 papers

NM_002918.5

p.Q212*

c.634C>T

2 papers

NM_002918.5

p.P261R

c.782C>G

2 papers

NM_002918.5

p.G301S

c.901G>A

2 papers

NM_002918.5

p.G362S

c.1084G>A

2 papers

NM_002918.5

p.D590N

c.1768G>A

2 papers

NM_002918.5

p.I890I

c.2670C>A

1 paper

NM_002918.5

p.Q17insFs

c.50_51ins5