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.K18delFs

c.52delA

Surrounding Variants

1 paper

NM_006565.4

p.I17insFs

c.50dupT

1 paper

NM_006565.4

p.G19fs

c.55_56fs

2 papers

NM_006565.4

p.G19*

c.55G>T

1 paper

NM_006565.4

p.G19G

c.57A>T

1 paper

NM_006565.4

p.T15ins4

c.44_45ins12

2 papers

NM_006565.4

p.T15S

c.44C>G

2 papers

NM_006565.4

p.K20R

c.59A>G

2 papers

NM_006565.4

p.T15S

c.43A>T

1 paper

NM_006565.4

p.E21_R22delFs

c.63_66del4

2 papers

NM_006565.4

p.E14G

c.41A>G

2 papers

NM_006565.4

p.E21*

c.61G>T

2 papers

NM_006565.4

p.E14K

c.40G>A