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

2 papers

NM_006565.4

p.G375R

c.1123G>A

Surrounding Variants

2 papers

NM_006565.4

p.G375R

c.1123G>C

1 paper

NM_006565.4

p.G375E

c.1124G>A

2 papers

NM_006565.4

p.G375A

c.1124G>C

2 papers

NM_006565.4

p.G375V

c.1124G>T

1 paper

NM_006565.4

p.T374I

c.1121C>T

4 papers

NM_006565.4

p.T374A

c.1120A>G

2 papers

NM_006565.4

p.E376K

c.1126G>A

1 paper

NM_006565.4

p.E376*

c.1126G>T

1 paper

NM_006565.4

p.E376G

c.1127A>G

5 papers

NM_006565.4

p.H373Q

c.1119T>A

5 papers

NM_006565.4

p.H373Q

c.1119T>G

4 papers

NM_006565.4

p.H373P

c.1118A>C