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.L98fs

c.292_293fs

Surrounding Variants

1 paper

NM_006565.4

p.L98S

c.293T>C

2 papers

NM_006565.4

p.L98delFs

c.292_293delTT

1 paper

NM_006565.4

p.Q99E

c.295C>G

2 papers

NM_006565.4

p.Q99H

c.297G>C

2 papers

NM_006565.4

p.Q99H

c.297G>T

1 paper

NM_006565.4

p.V100I

c.298G>A

1 paper

NM_006565.4

p.V100A

c.299T>C

1 paper

NM_006565.4

p.I95_I96Fs

c.285_286delinsTFs

1 paper

NM_006565.4

p.V101V

c.303A>G

1 paper

NM_006565.4

p.N102D

c.304A>G

1 paper

NM_006565.4

p.Q94K

c.280C>A

1 paper

NM_006565.4

p.Q94E

c.280C>G