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.E139K

c.415G>A

Surrounding Variants

1 paper

NM_006565.4

p.E139insFs

c.415_416insA

1 paper

NM_006565.4

p.N140fs

c.418_419fs

2 papers

NM_006565.4

p.E141K

c.421G>A

2 papers

NM_006565.4

p.A137fs

c.409_410fs

2 papers

NM_006565.4

p.E141fs

c.421_422fs

2 papers

NM_006565.4

p.E141*

c.421G>T

1 paper

NM_006565.4

p.A137fs

c.409_410fs

2 papers

NM_006565.4

p.E141G

c.422A>G

1 paper

NM_006565.4

p.V142M

c.424G>A

1 paper

NM_006565.4

p.A137insFs

c.409dupG

3 papers

NM_006565.4

p.Q135delFs

c.405delG

2 papers

NM_006565.4

p.Q135fs

c.403_404fs