Varaico: Literature-Extracted Genetic Variants

RFX2

51 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 4–154UCSCRFX1 transcription activation region

RFX_DNA_bindingaa 197–274UCSCRFX DNA-binding domain

BCD_RFXaa 369–660UCSCRFX BCD domain

Gene Aliases

HGNC Name

regulatory factor X2

HGNC Alias Symbol

FLJ14226

Papers

RefSeq ID

Protein change

DNA change

1–12 of 88 variants

3 papers

NM_000635.4

p.Y91C

c.272A>G

2 papers

NM_000635.4

p.G156V

c.467G>T

2 papers

NM_000635.4

p.E186K

c.556G>A

2 papers

NM_000635.4

p.A632T

c.1894G>A

1 paper

NM_000635.4

p.E5K

c.13G>A

1 paper

NM_000635.4

p.D9N

c.25G>A

1 paper

NM_000635.4

p.P26S

c.76C>T

1 paper

NM_000635.4

p.V34I

c.100G>A

1 paper

NM_000635.4

p.Q35insFs

c.103dupC

1 paper

NM_000635.4

p.Q45_M46delFs

c.135_136delTC

1 paper

NM_000635.4

p.Q47E

c.139C>G

1 paper

NM_000635.4

p.P48L

c.143C>T