Varaico: Literature-Extracted Genetic Variants

RFX3

65 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

RFX1_trans_actaa 12–138UCSCRFX1 transcription activation region

RFX_DNA_bindingaa 181–258UCSCRFX DNA-binding domain

BCD_RFXaa 353–645UCSCRFX BCD domain

Gene Aliases

HGNC Name

regulatory factor X3

HGNC Previous Name

regulatory factor X, 3 (influences HLA class II expression)

Papers

RefSeq ID

Protein change

DNA change

1–12 of 68 variants

4 papers

NM_001282116.2

p.Y135D

c.403T>G

3 papers

NM_001282116.2

p.S387C

c.1160C>G

2 papers

NM_001282116.2

p.V489L

c.1465G>T

2 papers

NM_001282116.2

p.V489L

c.1465G>C

2 papers

NM_001282116.2

p.A508E

c.1523C>A

2 papers

NM_001282116.2

p.V730I

c.2188G>A

1 paper

NM_001282116.2

p.T18P

c.52A>C

1 paper

NM_001282116.2

p.Q39*

c.115C>T

1 paper

NM_001282116.2

p.T76M

c.227C>T

1 paper

NM_001282116.2

p.A101T

c.301G>A

1 paper

NM_001282116.2

p.V107A

c.320T>C

1 paper

NM_001282116.2

p.M112insFs

c.335_336insA