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

2 papers

NM_001282116.2

p.V489L

c.1465G>C

Surrounding Variants

2 papers

NM_001282116.2

p.V489L

c.1465G>T

1 paper

NM_001282116.2

p.A488D

c.1463C>A

1 paper

NM_001282116.2

p.A493D

c.1478C>A

1 paper

NM_001282116.2

p.L496fs

c.1486_1487fs

1 paper

NM_001282116.2

p.L496delFs

c.1486_1487delAG

1 paper

NM_001282116.2

p.R498T

c.1493G>C

1 paper

NM_001282116.2

p.A508S

c.1522G>T

2 papers

NM_001282116.2

p.A508E

c.1523C>A

1 paper

NM_001282116.2

p.R510G

c.1528C>G

1 paper

NM_001282116.2

p.R510H

c.1529G>A

1 paper

NM_001282116.2

p.C544S

c.1630T>A

1 paper

NM_001282116.2

p.C544S

c.1631G>C