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

Selected Variant

1 paper

NM_002918.5

p.I605V

c.1813A>G

Surrounding Variants

1 paper

NM_002918.5

p.G599D

c.1796G>A

1 paper

NM_002918.5

p.C616S

c.1846T>A

1 paper

NM_002918.5

p.C616S

c.1847G>C

1 paper

NM_002918.5

p.Q592H

c.1776G>T

1 paper

NM_002918.5

p.Q592H

c.1776G>C

2 papers

NM_002918.5

p.D590N

c.1768G>A

1 paper

NM_002918.5

p.E588E

c.1764G>A

1 paper

NM_002918.5

p.P584fs

c.1750_1751fs

1 paper

NM_002918.5

p.V622I

c.1864G>A

1 paper

NM_002918.5

p.W639*

c.1916G>A

1 paper

NM_002918.5

p.W639*

c.1917G>A

1 paper

NM_002918.5

p.S644N

c.1931G>A