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

1–12 of 153 variants

11 papers

NM_014593.4

p.P270S

c.808C>T

10 papers

NM_014593.4

p.R255C

c.763C>T

9 papers

NM_014593.4

p.R111G

c.331A>G

9 papers

NM_014593.4

p.P225R

c.674C>G

7 papers

NM_014593.4

p.P270delFs

c.808delG

5 papers

NM_014593.4

p.E15_D16ins2

c.45_46ins6

5 papers

NM_014593.4

p.N45_C46ins6

c.133_137ins18

4 papers

NM_014593.4

p.P225L

c.674C>T

4 papers

NM_014593.4

p.R237delFs

c.710delC

3 papers

NM_014593.4

p.M1V

c.1A>G

3 papers

NM_014593.4

p.G129V

c.386G>T

3 papers

NM_014593.4

p.Q156del1

c.466_467delCTG