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.K260*

c.778A>T

Surrounding Variants

2 papers

NM_006565.4

p.K260fs

c.778_779fs

1 paper

NM_006565.4

p.K260fs

c.778_779fs

2 papers

NM_006565.4

p.K259N

c.777G>C

2 papers

NM_006565.4

p.K259N

c.777G>T

1 paper

NM_006565.4

p.K260_G261insFs

c.780_781insT

2 papers

NM_006565.4

p.G261S

c.781G>A

2 papers

NM_006565.4

p.G261Splc

c.781+1G>A

1 paper

NM_006565.4

p.G261A

c.782G>C

1 paper

NM_006565.4

p.G261Splc

c.781+1G>T

3 papers

NM_006565.4

p.K258R

c.773A>G

6 papers

NM_006565.4

p.K260_G261delFs

c.778_781del4

3 papers

NM_006565.4

p.G261Splc

c.781+2T>G