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

17 papers

NM_006565.4

p.R448Q

c.1343G>A

Surrounding Variants

2 papers

NM_006565.4

p.S450insFs

c.1348dupA

1 paper

NM_006565.4

p.S450delFs

c.1348delA

1 paper

NM_006565.4

p.R448fs

c.1342_1343fs

1 paper

NM_006565.4

p.R448G

c.1342C>G

19 papers

NM_006565.4

p.R448*

c.1342C>T

3 papers

NM_006565.4

p.S450fs

c.1348_1349fs

1 paper

NM_006565.4

p.I446M

c.1338A>G

1 paper

NM_006565.4

p.S450G

c.1348A>G

1 paper

NM_006565.4

p.I446K

c.1337T>A

4 papers

NM_006565.4

p.D451H

c.1351G>C

2 papers

NM_006565.4

p.D451Y

c.1351G>T

1 paper

NM_006565.4

p.D451A

c.1352A>C