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.V434A

c.1301T>C

Surrounding Variants

1 paper

NM_006565.4

p.V434M

c.1300G>A

6 papers

NM_006565.4

p.E432*

c.1294G>T

1 paper

NM_006565.4

p.F437Y

c.1310T>A

1 paper

NM_006565.4

p.H438_C439del2

c.1312_1316del6

1 paper

NM_006565.4

p.T431A

c.1291A>G

2 papers

NM_006565.4

p.H438Y

c.1312C>T

2 papers

NM_006565.4

p.H430R

c.1289A>G

1 paper

NM_006565.4

p.H438R

c.1313A>G

1 paper

NM_006565.4

p.H430fs

c.1288_1289fs

1 paper

NM_006565.4

p.H430_T431ins6

c.1288_1292ins18

1 paper

NM_006565.4

p.H430D

c.1288C>G

1 paper

NM_006565.4

p.H438H

c.1314C>T