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

11 papers

NM_014593.4

p.P270S

c.808C>T

Surrounding Variants

1 paper

NM_014593.4

p.S264_P270delFs

c.790_808del19

7 papers

NM_014593.4

p.P270delFs

c.808delG

2 papers

NM_014593.4

p.A272V

c.815C>T

1 paper

NM_014593.4

p.T275_P276insAA

c.823_827ins6

1 paper

NM_014593.4

p.S264Fs

c.791delinsCGCFs

1 paper

NM_014593.4

p.S280_D283delFs

c.838_847del10

1 paper

NM_014593.4

p.R255insFs

c.764_765ins7

10 papers

NM_014593.4

p.R255C

c.763C>T

1 paper

NM_014593.4

p.D283_L286delFs

c.847_857del11

1 paper

NM_014593.4

p.G252insFs

c.754_755insC

1 paper

NM_014593.4

p.D289insFs

c.865_866insA

2 papers

NM_014593.4

p.Q292insFs

c.875_876insA