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

Selected Variant

2 papers

NM_000635.4

p.E186K

c.556G>A

Surrounding Variants

1 paper

NM_000635.4

p.S185N

c.554G>A

1 paper

NM_000635.4

p.G194S

c.580G>A

1 paper

NM_000635.4

p.L200F

c.598C>T

1 paper

NM_000635.4

p.D205G

c.614A>G

1 paper

NM_000635.4

p.E208E

c.624A>G

1 paper

NM_000635.4

p.E211V

c.632A>T

1 paper

NM_000635.4

p.V213M

c.637G>A

1 paper

NM_000635.4

p.S219Y

c.656C>A

1 paper

NM_000635.4

p.L220F

c.658C>T