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.H430D

c.1288C>G

Surrounding Variants

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.H430delFs

c.1289delA

3 papers

NM_006565.4

p.H430fs

c.1288_1289fs

2 papers

NM_006565.4

p.H430R

c.1289A>G

1 paper

NM_006565.4

p.K429N

c.1287G>C

1 paper

NM_006565.4

p.K429N

c.1287G>T

3 papers

NM_006565.4

p.H430_N433delFs

c.1288_1298del11

1 paper

NM_006565.4

p.T431A

c.1291A>G

1 paper

NM_006565.4

p.Q428H

c.1284G>C

1 paper

NM_006565.4

p.Q428H

c.1284G>T

2 papers

NM_006565.4

p.Q428E

c.1282C>G