Varaico: Literature-Extracted Genetic Variants

RFX4

38 papers

RefSeq Summary

This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is s...

Pfam Domains

RFX_DNA_bindingaa 58–136UCSCRFX DNA-binding domain

BCD_RFXaa 201–475UCSCRFX BCD domain

Gene Aliases

HGNC Name

regulatory factor X4

HGNC Previous Name

regulatory factor X, 4 (influences HLA class II expression)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_213594.3

p.V252A

c.755T>C

Surrounding Variants

1 paper

NM_213594.3

p.V249V

c.747G>T

1 paper

NM_213594.3

p.T247M

c.740C>T

1 paper

NM_213594.3

p.I258I

c.774C>A

1 paper

NM_213594.3

p.A191D

c.572C>A

1 paper

NM_213594.3

p.K173E

c.517A>G

1 paper

NM_213594.3

p.Y168C

c.503A>G

1 paper

NM_213594.3

p.G149R

c.445G>A

1 paper

NM_213594.3

p.G149R

c.445G>C

1 paper

NM_213594.3

p.S137R

c.411C>A

1 paper

NM_213594.3

p.S137R

c.411C>G

1 paper

NM_213594.3

p.S137R

c.409A>C

1 paper

NM_213594.3

p.G131D

c.392G>A