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.Y651C

c.1952A>G

Surrounding Variants

1 paper

NM_000635.4

p.L652del1

c.1954_1955delCAG

1 paper

NM_000635.4

p.F650_L652del0

c.1948_1956del9

1 paper

NM_000635.4

p.M649_V653delFs

c.1946_1958del13

1 paper

NM_000635.4

p.A660T

c.1978G>A

2 papers

NM_000635.4

p.A632T

c.1894G>A

1 paper

NM_000635.4

p.R630C

c.1888C>T

1 paper

NM_000635.4

p.D626G

c.1877A>G

1 paper

NM_000635.4

p.L678_T681del4

c.2032_2042del12

1 paper

NM_000635.4

p.E706K

c.2116G>A

1 paper

NM_000635.4

p.L720_I723del4

c.2158_2168del12

1 paper

NM_000635.4

p.A608delFs

c.1824delG

1 paper

NM_000635.4

p.Q565R

c.1694A>G