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.V223E

c.668T>A

Surrounding Variants

1 paper

NM_006565.4

p.S224P

c.670T>C

1 paper

NM_006565.4

p.S224A

c.670T>G

1 paper

NM_006565.4

p.D222V

c.665A>T

1 paper

NM_006565.4

p.S224C

c.671C>G

1 paper

NM_006565.4

p.S224F

c.671C>T

1 paper

NM_006565.4

p.V225fs

c.673_674fs

1 paper

NM_006565.4

p.D220D

c.660T>C

12 papers

NM_006565.4

p.Y226C

c.677A>G

2 papers

NM_006565.4

p.Y226F

c.677A>T

1 paper

NM_006565.4

p.D227N

c.679G>A

1 paper

NM_006565.4

p.D227H

c.679G>C

3 papers

NM_006565.4

p.D227G

c.680A>G