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.Q153_H154Splc

c.460-3C>T

Surrounding Variants

1 paper

NM_014593.4

p.Q157fs

c.469_470fs

1 paper

NM_014593.4

p.Q157delFs

c.470_471delCT

3 papers

NM_014593.4

p.Q156del1

c.466_467delCTG

1 paper

NM_014593.4

p.R164L

c.491G>T

1 paper

NM_014593.4

p.Q153_H154Splc

c.460-39C>T

1 paper

NM_014593.4

p.R167C

c.499C>T

1 paper

NM_014593.4

p.R167P

c.500G>C

1 paper

NM_014593.4

p.E171Q

c.511G>C

1 paper

NM_014593.4

p.E171A

c.512A>C

1 paper

NM_014593.4

p.G170insFs

c.509_510insGT

1 paper

NM_014593.4

p.E173Q

c.517G>C

1 paper

NM_014593.4

p.Q153R

c.458A>G