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.E105insFs

c.313_314insGA

Surrounding Variants

1 paper

NM_006565.4

p.E105K

c.313G>A

1 paper

NM_006565.4

p.E105fs

c.313_314fs

1 paper

NM_006565.4

p.E105insFs

c.313_314dupGA

1 paper

NM_006565.4

p.E105_Q106delFs

c.313_317del5

1 paper

NM_006565.4

p.E105E

c.315A>G

1 paper

NM_006565.4

p.Q106fs

c.316_317fs

1 paper

NM_006565.4

p.Q106*

c.316C>T

1 paper

NM_006565.4

p.E104K

c.310G>A

2 papers

NM_006565.4

p.E104*

c.310G>T

1 paper

NM_006565.4

p.Q106P

c.317A>C

2 papers

NM_006565.4

p.M103I

c.309G>A

2 papers

NM_006565.4

p.M103I

c.309G>C