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.Q181*

c.541C>T

Surrounding Variants

1 paper

NM_002918.5

p.S182S

c.546C>T

1 paper

NM_002918.5

p.P174S

c.520C>T

1 paper

NM_002918.5

p.G198D

c.593G>A

1 paper

NM_002918.5

p.Q200delFs

c.600delC

1 paper

NM_002918.5

p.K154insFs

c.461_462insC

1 paper

NM_002918.5

p.K154insFs

c.460_461insC

1 paper

NM_002918.5

p.G129_V134delFs

c.386_401del16

1 paper

NM_002918.5

p.P131delFs

c.391_392delGG

1 paper

NM_002918.5

p.G122C

c.364G>T

2 papers

NM_002918.5

p.R111Q

c.332G>A

1 paper

NM_002918.5

p.G108fs

c.322_323fs

1 paper

NM_002918.5

p.V211G

c.632T>G