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.Q17insFs

c.50_51ins5

Surrounding Variants

1 paper

NM_002918.5

p.P19delFs

c.56delG

1 paper

NM_002918.5

p.P31L

c.92C>T

1 paper

NM_002918.5

p.Q39E

c.115C>G

1 paper

NM_002918.5

p.T45P

c.133A>C

1 paper

NM_002918.5

p.A46V

c.137C>T

1 paper

NM_002918.5

p.L78F

c.232C>T

1 paper

NM_002918.5

p.P79T

c.235C>A

1 paper

NM_002918.5

p.G89S

c.265G>A

1 paper

NM_002918.5

p.S94*

c.281C>A

1 paper

NM_002918.5

p.Q98*

c.292C>T

2 papers

NM_002918.5

p.V102L

c.304G>T

1 paper

NM_002918.5

p.E107Splc

c.319+2T>C