Varaico: Literature-Extracted Genetic Variants

CXXC1

281 papers

RefSeq Summary

This gene encodes a protein that functions as a transcriptional activator that binds specifically to non-methylated CpG motifs through its CXXC domain. The protein is a component of the SETD1 complex,...

Pfam Domains

PHDaa 29–73UCSCPHD-finger

zf-CXXCaa 160–208UCSCCXXC zinc finger domain

CpG_bind_Caa 400–636UCSCCpG binding protein C-terminal domain

Gene Aliases

HGNC Name

CXXC finger protein 1

HGNC Alias Symbols

HsT2645; PCCX1; hCGBP; PHF18; CGBP; CFP1; ZCGPC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_014593.4

p.M1V

c.1A>G

Surrounding Variants

2 papers

NM_014593.4

p.M1L

c.1A>T

1 paper

NM_014593.4

p.M1insFs

c.2dupT

1 paper

NM_014593.4

p.M1delFs

c.2delA

2 papers

NM_014593.4

p.E2delFs

c.6delC

5 papers

NM_014593.4

p.E15_D16ins2

c.45_46ins6

1 paper

NM_014593.4

p.E20K

c.58G>A

1 paper

NM_014593.4

p.A25V

c.74C>T

1 paper

NM_014593.4

p.I27F

c.79A>T

1 paper

NM_014593.4

p.P26delFs

c.76delG

1 paper

NM_014593.4

p.Y28H

c.82T>C

1 paper

NM_014593.4

p.R32C

c.94C>T

1 paper

NM_014593.4

p.R32_K33insFs

c.96_97insA