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.R377_P378ins0

c.1130_1132dupGTC

Surrounding Variants

1 paper

NM_006565.4

p.E376G

c.1127A>G

1 paper

NM_006565.4

p.R377S

c.1129C>A

39 papers

NM_006565.4

p.R377C

c.1129C>T

48 papers

NM_006565.4

p.R377H

c.1130G>A

2 papers

NM_006565.4

p.E376K

c.1126G>A

1 paper

NM_006565.4

p.E376*

c.1126G>T

2 papers

NM_006565.4

p.P378T

c.1132C>A

18 papers

NM_006565.4

p.P378A

c.1132C>G

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.P378Q

c.1133C>A