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.R213insFs

c.638_639insA

Surrounding Variants

5 papers

NM_006565.4

p.R213H

c.638G>A

1 paper

NM_006565.4

p.R213C

c.637C>T

1 paper

NM_006565.4

p.Y214fs

c.640_641fs

1 paper

NM_006565.4

p.L212delFs

c.635delT

1 paper

NM_006565.4

p.E216*

c.646G>T

2 papers

NM_006565.4

p.S210N

c.629G>A

2 papers

NM_006565.4

p.S210fs

c.628_629fs

1 paper

NM_006565.4

p.S210fs

c.628_629fs

1 paper

NM_006565.4

p.E217K

c.649G>A

1 paper

NM_006565.4

p.E217*

c.649G>T

1 paper

NM_006565.4

p.K209R

c.626A>G

1 paper

NM_006565.4

p.E217G

c.650A>G