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.Q232*

c.694C>T

Surrounding Variants

1 paper

NM_006565.4

p.Q232E

c.694C>G

1 paper

NM_006565.4

p.Q233*

c.697C>T

1 paper

NM_006565.4

p.E230E

c.690A>G

1 paper

NM_006565.4

p.Q233H

c.699G>C

1 paper

NM_006565.4

p.Q233H

c.699G>T

1 paper

NM_006565.4

p.E230fs

c.688_689fs

1 paper

NM_006565.4

p.E230*

c.688G>T

2 papers

NM_006565.4

p.E230fs

c.688_689fs

1 paper

NM_006565.4

p.E229G

c.686A>G

4 papers

NM_006565.4

p.E230delFs

c.688delG

3 papers

NM_006565.4

p.E234D

c.702G>C

3 papers

NM_006565.4

p.E234D

c.702G>T