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.V175M

c.523G>A

Surrounding Variants

2 papers

NM_006565.4

p.E174K

c.520G>A

2 papers

NM_006565.4

p.E174*

c.520G>T

1 paper

NM_006565.4

p.E176*

c.526G>T

1 paper

NM_006565.4

p.T177A

c.529A>G

1 paper

NM_006565.4

p.G173*

c.517G>T

3 papers

NM_006565.4

p.N172K

c.516T>A

1 paper

NM_006565.4

p.N172K

c.516T>G

1 paper

NM_006565.4

p.N172S

c.515A>G

3 papers

NM_006565.4

p.L178_Q180delFs

c.532_538del7

1 paper

NM_006565.4

p.N172D

c.514A>G

2 papers

NM_006565.4

p.L178I

c.532C>A

1 paper

NM_006565.4

p.L178fs

c.532_533fs