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

2 papers

NM_006565.4

p.P252T

c.754C>A

Surrounding Variants

1 paper

NM_006565.4

p.P252S

c.754C>T

2 papers

NM_006565.4

p.P254S

c.760C>T

2 papers

NM_006565.4

p.M249V

c.745A>G

1 paper

NM_006565.4

p.T255K

c.764C>A

1 paper

NM_006565.4

p.T255I

c.764C>T

2 papers

NM_006565.4

p.K256Q

c.766A>C

1 paper

NM_006565.4

p.N248D

c.742A>G

3 papers

NM_006565.4

p.I257V

c.769A>G

1 paper

NM_006565.4

p.I257fs

c.769_770fs

1 paper

NM_006565.4

p.G247fs

c.739_740fs

1 paper

NM_006565.4

p.I257N

c.770T>A

1 paper

NM_006565.4

p.I257M

c.771T>G