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

1–12 of 41 variants

2 papers

NM_213594.3

p.N352K

c.1056C>A

1 paper

NM_213594.3

p.M1I

c.3G>A

1 paper

NM_213594.3

p.M1I

c.3G>C

1 paper

NM_213594.3

p.M1I

c.3G>T

1 paper

NM_213594.3

p.C21*

c.63T>A

1 paper

NM_213594.3

p.D42V

c.125A>T

1 paper

NM_213594.3

p.E46E

c.138A>G

1 paper

NM_213594.3

p.W64Splc

c.192-115G>A

1 paper

NM_213594.3

p.A72V

c.215C>T

1 paper

NM_213594.3

p.R79S

c.235C>A

1 paper

NM_213594.3

p.R79C

c.235C>T

1 paper

NM_213594.3

p.R122Q

c.365G>A