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.S143Y

c.428C>A

Surrounding Variants

2 papers

NM_006565.4

p.S143F

c.428C>T

1 paper

NM_006565.4

p.K144ins2

c.430_431ins6

1 paper

NM_006565.4

p.K144*

c.430A>T

1 paper

NM_006565.4

p.V142M

c.424G>A

1 paper

NM_006565.4

p.E145K

c.433G>A

1 paper

NM_006565.4

p.E145Q

c.433G>C

1 paper

NM_006565.4

p.E145*

c.433G>T

1 paper

NM_006565.4

p.E145fs

c.433_434fs

2 papers

NM_006565.4

p.E141G

c.422A>G

2 papers

NM_006565.4

p.E141K

c.421G>A

2 papers

NM_006565.4

p.E141fs

c.421_422fs

2 papers

NM_006565.4

p.E141*

c.421G>T