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.K323K

c.969G>A

Surrounding Variants

1 paper

NM_006565.4

p.K323M

c.968A>T

1 paper

NM_006565.4

p.C324G

c.970T>G

1 paper

NM_006565.4

p.C324Y

c.971G>A

1 paper

NM_006565.4

p.H322P

c.965A>C

2 papers

NM_006565.4

p.P325L

c.974C>T

1 paper

NM_006565.4

p.H322Y

c.964C>T

1 paper

NM_006565.4

p.H322fs

c.964_965fs

1 paper

NM_006565.4

p.D326Y

c.976G>T

3 papers

NM_006565.4

p.R320H

c.959G>A

3 papers

NM_006565.4

p.C327S

c.979T>A

1 paper

NM_006565.4

p.C327R

c.979T>C

1 paper

NM_006565.4

p.R320S

c.958C>A