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.A8delFs

c.23delC

Surrounding Variants

4 papers

NM_006565.4

p.E7K

c.19G>A

2 papers

NM_006565.4

p.V6V

c.18C>T

1 paper

NM_006565.4

p.V10delFs

c.28delG

1 paper

NM_006565.4

p.V6Fs

c.16delinsATTFs

1 paper

NM_006565.4

p.V6fs

c.16_17fs

1 paper

NM_006565.4

p.A5A

c.15A>T

1 paper

NM_006565.4

p.V10A

c.29T>C

2 papers

NM_006565.4

p.V10G

c.29T>G

1 paper

NM_006565.4

p.A5T

c.13G>A

1 paper

NM_006565.4

p.A5P

c.13G>C

1 paper

NM_006565.4

p.E12Q

c.34G>C

1 paper

NM_006565.4

p.E12V

c.35A>T