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.E520D

c.1560G>T

Surrounding Variants

1 paper

NM_006565.4

p.E520D

c.1560G>C

1 paper

NM_006565.4

p.K521*

c.1561A>T

1 paper

NM_006565.4

p.Y523_C525delFs

c.1567_1573del7

2 papers

NM_006565.4

p.G519E

c.1556G>A

2 papers

NM_006565.4

p.Y523delFs

c.1567delT

4 papers

NM_006565.4

p.G519R

c.1555G>A

4 papers

NM_006565.4

p.G519R

c.1555G>C

1 paper

NM_006565.4

p.T518T

c.1554C>T

2 papers

NM_006565.4

p.T518S

c.1553C>G

1 paper

NM_006565.4

p.Y523insFs

c.1567_1568insA

1 paper

NM_006565.4

p.Y523insFs

c.1567_1568insC

3 papers

NM_006565.4

p.Y523fs

c.1567_1568fs