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

3 papers

NM_006565.4

p.K258R

c.773A>G

Surrounding Variants

6 papers

NM_006565.4

p.K260_G261delFs

c.778_781del4

1 paper

NM_006565.4

p.K258fs

c.772_773fs

3 papers

NM_006565.4

p.K258E

c.772A>G

2 papers

NM_006565.4

p.K258fs

c.772_773fs

1 paper

NM_006565.4

p.I257M

c.771T>G

6 papers

NM_006565.4

p.K258_K259delFs

c.773_776del4

1 paper

NM_006565.4

p.I257N

c.770T>A

3 papers

NM_006565.4

p.I257V

c.769A>G

1 paper

NM_006565.4

p.I257fs

c.769_770fs

2 papers

NM_006565.4

p.K259N

c.777G>C

2 papers

NM_006565.4

p.K259N

c.777G>T

2 papers

NM_006565.4

p.K260fs

c.778_779fs