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.E30fs

c.88_89fs

Surrounding Variants

1 paper

NM_006565.4

p.E30K

c.88G>A

1 paper

NM_006565.4

p.R29R

c.87G>C

1 paper

NM_006565.4

p.G31delFs

c.91delG

2 papers

NM_006565.4

p.R29Q

c.86G>A

1 paper

NM_006565.4

p.R29fs

c.85_86fs

4 papers

NM_006565.4

p.R29W

c.85C>T

1 paper

NM_006565.4

p.R29delFs

c.86delG

1 paper

NM_006565.4

p.G31fs

c.91_92fs

2 papers

NM_006565.4

p.R28R

c.84C>T

1 paper

NM_006565.4

p.G31E

c.92G>A

1 paper

NM_006565.4

p.R28H

c.83G>A

1 paper

NM_006565.4

p.G31G

c.93G>A