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

4 papers

NM_014593.4

p.R237delFs

c.710delC

Surrounding Variants

1 paper

NM_014593.4

p.R236delFs

c.706_707delCG

1 paper

NM_014593.4

p.P235R

c.704C>G

1 paper

NM_014593.4

p.P235insFs

c.704_705insG

1 paper

NM_014593.4

p.P240fs

c.718_719fs

1 paper

NM_014593.4

p.P235S

c.703C>T

1 paper

NM_014593.4

p.P233S

c.697C>T

1 paper

NM_014593.4

p.Q243_Q244insFs

c.729_730insTT

1 paper

NM_014593.4

p.Q243Q

c.729G>A

2 papers

NM_014593.4

p.Q244*

c.730C>T

1 paper

NM_014593.4

p.L232insFs

c.694_695insT

2 papers

NM_014593.4

p.Q244insFs

c.731_732insC

1 paper

NM_014593.4

p.Q246*

c.736C>T