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

3 papers

NM_000635.4

p.Y91C

c.272A>G

Surrounding Variants

1 paper

NM_000635.4

p.P97delFs

c.289_290delGG

1 paper

NM_000635.4

p.A101T

c.301G>A

1 paper

NM_000635.4

p.A101V

c.302C>T

1 paper

NM_000635.4

p.P102P

c.306C>G

1 paper

NM_000635.4

p.A111D

c.332C>A

1 paper

NM_000635.4

p.G114S

c.340G>A

1 paper

NM_000635.4

p.V119insFs

c.356dupT

1 paper

NM_000635.4

p.A120E

c.359C>A

1 paper

NM_000635.4

p.A121_S122ins1

c.363_364insACA

1 paper

NM_000635.4

p.S122L

c.365C>T

1 paper

NM_000635.4

p.P124ins1

c.371_372insACA

1 paper

NM_000635.4

p.I135_T136del2

c.403_407del6