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.A553A

c.1659G>A

Surrounding Variants

2 papers

NM_006565.4

p.A553V

c.1658C>T

3 papers

NM_006565.4

p.A554S

c.1660G>T

1 paper

NM_006565.4

p.A553T

c.1657G>A

2 papers

NM_006565.4

p.P552H

c.1655C>A

1 paper

NM_006565.4

p.P552_A553insC

c.1654_1658ins3

4 papers

NM_006565.4

p.P552S

c.1654C>T

1 paper

NM_006565.4

p.V556_K559delFs

c.1666_1676del11

2 papers

NM_006565.4

p.C557_S558delFs

c.1670_1674del5

1 paper

NM_006565.4

p.V551A

c.1652T>C

2 papers

NM_006565.4

p.V551I

c.1651G>A

2 papers

NM_006565.4

p.V551F

c.1651G>T

2 papers

NM_006565.4

p.V556A

c.1667T>C