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.E35G

c.104A>G

Surrounding Variants

1 paper

NM_006565.4

p.E35E

c.105A>G

2 papers

NM_006565.4

p.D36N

c.106G>A

1 paper

NM_006565.4

p.E34*

c.100G>T

1 paper

NM_006565.4

p.Q33H

c.99G>C

1 paper

NM_006565.4

p.Q33H

c.99G>T

1 paper

NM_006565.4

p.G32G

c.96C>A

1 paper

NM_006565.4

p.G32S

c.94G>A

2 papers

NM_006565.4

p.G32C

c.94G>T

1 paper

NM_006565.4

p.G31G

c.93G>A

1 paper

NM_006565.4

p.H39R

c.116A>G

1 paper

NM_006565.4

p.H39L

c.116A>T

1 paper

NM_006565.4

p.G31E

c.92G>A