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.S217P

c.649T>C

Surrounding Variants

1 paper

NM_002918.5

p.T220A

c.658A>G

2 papers

NM_002918.5

p.Q212*

c.634C>T

1 paper

NM_002918.5

p.V211G

c.632T>G

1 paper

NM_002918.5

p.Q239*

c.715C>T

1 paper

NM_002918.5

p.V241G

c.722T>G

1 paper

NM_002918.5

p.E246_R247Splc

c.738+2T>G

1 paper

NM_002918.5

p.Q251*

c.751C>T

2 papers

NM_002918.5

p.P261R

c.782C>G

1 paper

NM_002918.5

p.Q200delFs

c.600delC

1 paper

NM_002918.5

p.G198D

c.593G>A

1 paper

NM_002918.5

p.S182S

c.546C>T

1 paper

NM_002918.5

p.Q181*

c.541C>T