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.R567P

c.1700G>C

Surrounding Variants

2 papers

NM_006565.4

p.R567Q

c.1700G>A

5 papers

NM_006565.4

p.R567L

c.1700G>T

22 papers

NM_006565.4

p.R567W

c.1699C>T

2 papers

NM_006565.4

p.R566H

c.1697G>A

5 papers

NM_006565.4

p.R566C

c.1696C>T

1 paper

NM_006565.4

p.R567_N568Splc

c.1701+6G>A

1 paper

NM_006565.4

p.T563_F564insFs

c.1689_1690ins10

1 paper

NM_006565.4

p.T563T

c.1689A>T

3 papers

NM_006565.4

p.T563I

c.1688C>T

1 paper

NM_006565.4

p.K562*

c.1684A>T

1 paper

NM_006565.4

p.S558C

c.1673C>G

2 papers

NM_006565.4

p.S558_K559Fs

c.1673_1675delinsTTFs