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.S56I

c.167G>T

Surrounding Variants

3 papers

NM_006565.4

p.S56_V58delFs

c.168_174del7

3 papers

NM_006565.4

p.S57fs

c.169_170fs

2 papers

NM_006565.4

p.N55N

c.165C>T

1 paper

NM_006565.4

p.V58I

c.172G>A

2 papers

NM_006565.4

p.V54A

c.161T>C

1 paper

NM_006565.4

p.Q59H

c.177G>C

1 paper

NM_006565.4

p.D53fs

c.157_158fs

1 paper

NM_006565.4

p.Q59H

c.177G>T

1 paper

NM_006565.4

p.M60L

c.178A>C

2 papers

NM_006565.4

p.Q52H

c.156G>C

2 papers

NM_006565.4

p.Q52H

c.156G>T

1 paper

NM_006565.4

p.V51V

c.153C>T