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

Selected Variant

1 paper

NM_001282116.2

p.Q381E

c.1141C>G

Surrounding Variants

1 paper

NM_001282116.2

p.F383S

c.1148T>C

3 papers

NM_001282116.2

p.S387C

c.1160C>G

1 paper

NM_001282116.2

p.P391A

c.1171C>G

1 paper

NM_001282116.2

p.E399K

c.1195G>A

1 paper

NM_001282116.2

p.N402D

c.1204A>G

1 paper

NM_001282116.2

p.C429R

c.1285T>C

1 paper

NM_001282116.2

p.L443I

c.1327C>A

1 paper

NM_001282116.2

p.V336V

c.1008T>A

1 paper

NM_001282116.2

p.P331S

c.991C>T

1 paper

NM_001282116.2

p.A488D

c.1463C>A

2 papers

NM_001282116.2

p.V489L

c.1465G>T

2 papers

NM_001282116.2

p.V489L

c.1465G>C