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.E243*

c.727G>T

Surrounding Variants

2 papers

NM_006565.4

p.E243K

c.727G>A

1 paper

NM_006565.4

p.K244fs

c.730_731fs

1 paper

NM_006565.4

p.K244*

c.730A>T

1 paper

NM_006565.4

p.A242S

c.724G>T

1 paper

NM_006565.4

p.K244_V246delFs

c.732_738del7

2 papers

NM_006565.4

p.N241S

c.722A>G

1 paper

NM_006565.4

p.K244K

c.732A>G

1 paper

NM_006565.4

p.V246delFs

c.737delT

1 paper

NM_006565.4

p.E239Q

c.715G>C

1 paper

NM_006565.4

p.G247fs

c.739_740fs

3 papers

NM_006565.4

p.S238*

c.713C>A

3 papers

NM_006565.4

p.S238*

c.713C>G