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.Q59H

c.177G>C

Surrounding Variants

1 paper

NM_006565.4

p.Q59H

c.177G>T

1 paper

NM_006565.4

p.M60L

c.178A>C

1 paper

NM_006565.4

p.V58I

c.172G>A

1 paper

NM_006565.4

p.M62_L66delFs

c.184_197del14

1 paper

NM_006565.4

p.M62fs

c.184_185fs

3 papers

NM_006565.4

p.S57fs

c.169_170fs

1 paper

NM_006565.4

p.M63fs

c.187_188fs

1 paper

NM_006565.4

p.M63L

c.187A>T

1 paper

NM_006565.4

p.S56I

c.167G>T

3 papers

NM_006565.4

p.S56_V58delFs

c.168_174del7

1 paper

NM_006565.4

p.M63T

c.188T>C

1 paper

NM_006565.4

p.M63R

c.188T>G