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.L178_G181delins

c.533_542delinsC

Surrounding Variants

2 papers

NM_006565.4

p.L178I

c.532C>A

1 paper

NM_006565.4

p.L178fs

c.532_533fs

3 papers

NM_006565.4

p.L178_Q180delFs

c.532_538del7

1 paper

NM_006565.4

p.E179K

c.535G>A

1 paper

NM_006565.4

p.Q180ins0

c.538_540dupCAA

2 papers

NM_006565.4

p.E179*

c.535G>T

1 paper

NM_006565.4

p.T177A

c.529A>G

1 paper

NM_006565.4

p.Q180*

c.538C>T

1 paper

NM_006565.4

p.Q180R

c.539A>G

1 paper

NM_006565.4

p.Q180_G181insFs

c.540_541insG

1 paper

NM_006565.4

p.E182delFs

c.544delG

1 paper

NM_006565.4

p.G181delFs

c.541_542delGG