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.K23N

c.69G>T

Surrounding Variants

1 paper

NM_006565.4

p.K23N

c.69G>C

1 paper

NM_006565.4

p.T24insFs

c.70dupA

1 paper

NM_006565.4

p.T24Fs

c.70delinsCAFs

2 papers

NM_006565.4

p.T24_Y25delFs

c.72_75del4

1 paper

NM_006565.4

p.T24insFs

c.70_71ins10

1 paper

NM_006565.4

p.T24fs

c.70_71fs

1 paper

NM_006565.4

p.T24A

c.70A>G

2 papers

NM_006565.4

p.T24S

c.70A>T

1 paper

NM_006565.4

p.K23fs

c.67_68fs

1 paper

NM_006565.4

p.K23fs

c.67_68fs

2 papers

NM_006565.4

p.T24S

c.71C>G

1 paper

NM_006565.4

p.T24I

c.71C>T