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

1 paper

NM_000635.4

p.L371insFs

c.1113dupG

Surrounding Variants

1 paper

NM_000635.4

p.H376delFs

c.1126delG

1 paper

NM_000635.4

p.V366delFs

c.1098delG

1 paper

NM_000635.4

p.T362delFs

c.1085_1086delTG

1 paper

NM_000635.4

p.D351Y

c.1051G>T

1 paper

NM_000635.4

p.E378_A379Splc

c.1134+103G>T

1 paper

NM_000635.4

p.T380_V381delFs

c.1140_1143del4

1 paper

NM_000635.4

p.S407insFs

c.1221dupC

1 paper

NM_000635.4

p.E418insFs

c.1254dupA

1 paper

NM_000635.4

p.A423T

c.1267G>A

1 paper

NM_000635.4

p.D437N

c.1309G>A

1 paper

NM_000635.4

p.Y451delFs

c.1351delA

1 paper

NM_000635.4

p.Q452*

c.1354C>T