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.S558C

c.1673C>G

Surrounding Variants

2 papers

NM_006565.4

p.S558_K559Fs

c.1673_1675delinsTTFs

1 paper

NM_006565.4

p.S558fs

c.1672_1673fs

1 paper

NM_006565.4

p.C557*

c.1671T>A

1 paper

NM_006565.4

p.C557Y

c.1670G>A

1 paper

NM_006565.4

p.C557S

c.1670G>C

1 paper

NM_006565.4

p.C557F

c.1670G>T

1 paper

NM_006565.4

p.C557S

c.1669T>A

2 papers

NM_006565.4

p.C557R

c.1669T>C

2 papers

NM_006565.4

p.V556A

c.1667T>C

2 papers

NM_006565.4

p.C557_S558delFs

c.1670_1674del5

1 paper

NM_006565.4

p.V556_K559delFs

c.1666_1676del11

1 paper

NM_006565.4

p.K562*

c.1684A>T