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

2 papers

NM_006565.4

p.D547G

c.1640A>G

Surrounding Variants

2 papers

NM_006565.4

p.D547_F550Fs

c.1640_1650delinsTFs

2 papers

NM_006565.4

p.P548_P552delFs

c.1642_1655del14

1 paper

NM_006565.4

p.D547N

c.1639G>A

1 paper

NM_006565.4

p.D547fs

c.1639_1640fs

1 paper

NM_006565.4

p.D547fs

c.1639_1640fs

2 papers

NM_006565.4

p.P548T

c.1642C>A

1 paper

NM_006565.4

p.H546Y

c.1636C>T

5 papers

NM_006565.4

p.Y545C

c.1634A>G

1 paper

NM_006565.4

p.Y545fs

c.1633_1634fs

1 paper

NM_006565.4

p.Y545delFs

c.1633delT

2 papers

NM_006565.4

p.R544C

c.1630C>T

1 paper

NM_006565.4

p.F550F

c.1650C>T