Varaico: Literature-Extracted Genetic Variants

CTCF

781 papers

RefSeq Summary

This gene is a member of the BORIS + CTCF gene family and encodes a transcriptional regulator protein with 11 highly conserved zinc finger (ZF) domains. This nuclear protein is able to use different c...

Pfam Domains

zf-C2H2aa 266–288UCSCZinc finger, C2H2 type

zf-C2H2aa 294–316UCSCZinc finger, C2H2 type

zf-C2H2aa 322–345UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

CCCTC-binding factor

HGNC Alias Symbols

FAP108; CFAP108

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006565.4

p.E112insFs

c.334dupG

Surrounding Variants

2 papers

NM_006565.4

p.G111E

c.332G>A

1 paper

NM_006565.4

p.E112K

c.334G>A

2 papers

NM_006565.4

p.G111A

c.332G>C

1 paper

NM_006565.4

p.E112Q

c.334G>C

4 papers

NM_006565.4

p.E112*

c.334G>T

5 papers

NM_006565.4

p.G111fs

c.331_332fs

1 paper

NM_006565.4

p.L113I

c.337C>A

5 papers

NM_006565.4

p.I110insFs

c.329dupT

1 paper

NM_006565.4

p.Q114*

c.340C>T

1 paper

NM_006565.4

p.I108K

c.323T>A

1 paper

NM_006565.4

p.I108V

c.322A>G

1 paper

NM_006565.4

p.L115P

c.344T>C