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.Q44insFs

c.132dupG

Surrounding Variants

1 paper

NM_006565.4

p.Q44R

c.131A>G

3 papers

NM_006565.4

p.Q44K

c.130C>A

1 paper

NM_006565.4

p.Q44_T45ins12

c.130_134ins36

2 papers

NM_006565.4

p.T45M

c.134C>T

4 papers

NM_006565.4

p.D46N

c.136G>A

1 paper

NM_006565.4

p.G48insFs

c.143dupG

1 paper

NM_006565.4

p.P41P

c.123C>T

2 papers

NM_006565.4

p.G47R

c.139G>A

2 papers

NM_006565.4

p.G47R

c.139G>C

3 papers

NM_006565.4

p.G47W

c.139G>T

1 paper

NM_006565.4

p.P41H

c.122C>A

1 paper

NM_006565.4

p.G47E

c.140G>A