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.A608delFs

c.1824delG

Surrounding Variants

1 paper

NM_000635.4

p.Q565R

c.1694A>G

1 paper

NM_000635.4

p.E561D

c.1683G>T

1 paper

NM_000635.4

p.E561D

c.1683G>C

1 paper

NM_000635.4

p.A526V

c.1577C>T

1 paper

NM_000635.4

p.V504F

c.1510G>T

1 paper

NM_000635.4

p.G502D

c.1505G>A

1 paper

NM_000635.4

p.R475C

c.1423C>T

1 paper

NM_000635.4

p.I474T

c.1421T>C

1 paper

NM_000635.4

p.D626G

c.1877A>G

1 paper

NM_000635.4

p.R630C

c.1888C>T

2 papers

NM_000635.4

p.A632T

c.1894G>A

1 paper

NM_000635.4

p.Y651C

c.1952A>G