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.Q198*

c.592C>T

Surrounding Variants

2 papers

NM_006565.4

p.Y197*

c.591T>A

2 papers

NM_006565.4

p.Y197*

c.591T>G

1 paper

NM_006565.4

p.Y197C

c.590A>G

1 paper

NM_006565.4

p.P200delFs

c.599delC

1 paper

NM_006565.4

p.P200insFs

c.598_599ins4

1 paper

NM_006565.4

p.P200fs

c.598_599fs

1 paper

NM_006565.4

p.P200S

c.598C>T

1 paper

NM_006565.4

p.P195S

c.583C>T

6 papers

NM_006565.4

p.A201fs

c.601_602fs

1 paper

NM_006565.4

p.P195insFs

c.583_584ins7

33 papers

NM_006565.4

p.T204insFs

c.610_611insA

3 papers

NM_006565.4

p.K203_T204insFs

c.609_610dupAA