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.D91insFs

c.271_272ins14

Surrounding Variants

1 paper

NM_006565.4

p.D91D

c.273C>T

1 paper

NM_006565.4

p.A88_A89insFs

c.264_265insGT

2 papers

NM_006565.4

p.T93I

c.278C>T

1 paper

NM_006565.4

p.A88P

c.262G>C

1 paper

NM_006565.4

p.E87E

c.261G>A

1 paper

NM_006565.4

p.Q94K

c.280C>A

1 paper

NM_006565.4

p.Q94E

c.280C>G

2 papers

NM_006565.4

p.Q94*

c.280C>T

1 paper

NM_006565.4

p.Q94_I95delFs

c.281_284del4

1 paper

NM_006565.4

p.E87K

c.259G>A

1 paper

NM_006565.4

p.E87fs

c.259_260fs

2 papers

NM_006565.4

p.E87*

c.259G>T