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

4 papers

NM_006565.4

p.S354Y

c.1061C>A

Surrounding Variants

14 papers

NM_006565.4

p.S354F

c.1061C>T

3 papers

NM_006565.4

p.S354T

c.1060T>A

1 paper

NM_006565.4

p.C353*

c.1059T>A

2 papers

NM_006565.4

p.C353W

c.1059T>G

2 papers

NM_006565.4

p.C353Y

c.1058G>A

1 paper

NM_006565.4

p.C353ins1

c.1058_1059insGAC

1 paper

NM_006565.4

p.M355T

c.1064T>C

1 paper

NM_006565.4

p.C353G

c.1057T>G

1 paper

NM_006565.4

p.C353insFs

c.1057_1058insA

1 paper

NM_006565.4

p.C353fs

c.1057_1058fs

4 papers

NM_006565.4

p.C353fs

c.1057_1058fs

3 papers

NM_006565.4

p.K352N

c.1056G>C