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

2 papers

NM_002918.5

p.I890I

c.2670C>A

Surrounding Variants

1 paper

NM_002918.5

p.D883E

c.2649C>G

1 paper

NM_002918.5

p.D883E

c.2649C>A

1 paper

NM_002918.5

p.A945V

c.2834C>T

1 paper

NM_002918.5

p.P843A

c.2527C>G

1 paper

NM_002918.5

p.G953_E955del0

c.2859_2864del6

1 paper

NM_002918.5

p.G841S

c.2521G>A

1 paper

NM_002918.5

p.Y836Y

c.2508C>T

1 paper

NM_002918.5

p.A822A

c.2466G>A

1 paper

NM_002918.5

p.Q820_W821insFs

c.2459_2462dup4

1 paper

NM_002918.5

p.W821fs

c.2461_2462fs

1 paper

NM_002918.5

p.R795C

c.2383C>T

1 paper

NM_002918.5

p.Q787_E788Splc

c.2361+8C>T