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.P189fs

c.565_566fs

Surrounding Variants

1 paper

NM_006565.4

p.P189_D194delFs

c.567_582del16

1 paper

NM_006565.4

p.P189R

c.566C>G

1 paper

NM_006565.4

p.D188E

c.564T>A

1 paper

NM_006565.4

p.D188E

c.564T>G

1 paper

NM_006565.4

p.S190fs

c.568_569fs

2 papers

NM_006565.4

p.E187K

c.559G>A

3 papers

NM_006565.4

p.W191*

c.572G>A

1 paper

NM_006565.4

p.Q186P

c.557A>C

1 paper

NM_006565.4

p.Q186R

c.557A>G

3 papers

NM_006565.4

p.W191*

c.573G>A

1 paper

NM_006565.4

p.K193insFs

c.579dupA

2 papers

NM_006565.4

p.Q186fs

c.556_557fs