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.V124L

c.370G>C

Surrounding Variants

1 paper

NM_006565.4

p.V124L

c.370G>T

1 paper

NM_006565.4

p.V124fs

c.370_371fs

1 paper

NM_006565.4

p.P125insFs

c.374dupC

3 papers

NM_006565.4

p.T123A

c.367A>G

1 paper

NM_006565.4

p.P125fs

c.373_374fs

2 papers

NM_006565.4

p.P125S

c.373C>T

9 papers

NM_006565.4

p.P125insFs

c.375dupT

1 paper

NM_006565.4

p.V122V

c.366G>A

1 paper

NM_006565.4

p.P125P

c.375T>C

1 paper

NM_006565.4

p.V122L

c.364G>C

1 paper

NM_006565.4

p.V126fs

c.376_377fs

6 papers

NM_006565.4

p.V126fs

c.376_377fs