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

1 paper

NM_014593.4

p.T126T

c.378A>G

Surrounding Variants

1 paper

NM_014593.4

p.T126_G127insFs

c.378_379ins5

3 papers

NM_014593.4

p.G129V

c.386G>T

2 papers

NM_014593.4

p.A130A

c.390C>T

1 paper

NM_014593.4

p.K141R

c.422A>G

1 paper

NM_014593.4

p.R111delFs

c.331delT

9 papers

NM_014593.4

p.R111G

c.331A>G

1 paper

NM_014593.4

p.S142S

c.426C>G

1 paper

NM_014593.4

p.K110Q

c.328A>C

1 paper

NM_014593.4

p.G108fs

c.322_323fs

1 paper

NM_014593.4

p.G106insFs

c.316_317insA

1 paper

NM_014593.4

p.A149D

c.446C>A

1 paper

NM_014593.4

p.P102delFs

c.305delG