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.K352E

c.1054A>G

Surrounding Variants

1 paper

NM_006565.4

p.K352*

c.1054A>T

1 paper

NM_006565.4

p.K352fs

c.1054_1055fs

1 paper

NM_006565.4

p.K352R

c.1055A>G

3 papers

NM_006565.4

p.F351L

c.1053C>A

5 papers

NM_006565.4

p.K352insFs

c.1054_1055insA

3 papers

NM_006565.4

p.F351L

c.1053C>G

3 papers

NM_006565.4

p.K352N

c.1056G>C

3 papers

NM_006565.4

p.K352N

c.1056G>T

1 paper

NM_006565.4

p.K352Fs

c.1054delinsCAFs

3 papers

NM_006565.4

p.F351L

c.1051T>C

1 paper

NM_006565.4

p.C353G

c.1057T>G

1 paper

NM_006565.4

p.C353insFs

c.1057_1058insA