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.T204I

c.611C>T

Surrounding Variants

2 papers

NM_006565.4

p.T204K

c.611C>A

1 paper

NM_006565.4

p.T204R

c.611C>G

6 papers

NM_006565.4

p.K205_K206delFs

c.615_618del4

1 paper

NM_006565.4

p.T204_K206delFs

c.612_616del5

30 papers

NM_006565.4

p.T204fs

c.610_611fs

1 paper

NM_006565.4

p.T204P

c.610A>C

30 papers

NM_006565.4

p.T204fs

c.610_611fs

1 paper

NM_006565.4

p.K205Q

c.613A>C

1 paper

NM_006565.4

p.K205fs

c.613_614fs

1 paper

NM_006565.4

p.K203R

c.608A>G

2 papers

NM_006565.4

p.K205N

c.615G>C

2 papers

NM_006565.4

p.K205N

c.615G>T