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

5 papers

NM_006565.4

p.D529N

c.1585G>A

Surrounding Variants

1 paper

NM_006565.4

p.C528*

c.1584C>A

3 papers

NM_006565.4

p.C528S

c.1583G>C

3 papers

NM_006565.4

p.C528S

c.1582T>A

1 paper

NM_006565.4

p.H527insFs

c.1580dupA

1 paper

NM_006565.4

p.H527fs

c.1579_1580fs

1 paper

NM_006565.4

p.S526S

c.1578C>T

2 papers

NM_006565.4

p.F532_L538del7

c.1594_1613del21

1 paper

NM_006565.4

p.S526N

c.1577G>A

2 papers

NM_006565.4

p.R533C

c.1597C>T

1 paper

NM_006565.4

p.R533H

c.1598G>A

2 papers

NM_006565.4

p.R533L

c.1598G>T

4 papers

NM_006565.4

p.A524T

c.1570G>A