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.T157S

c.469A>T

Surrounding Variants

1 paper

NM_006565.4

p.T157S

c.470C>G

1 paper

NM_006565.4

p.T157I

c.470C>T

1 paper

NM_006565.4

p.H156L

c.467A>T

1 paper

NM_006565.4

p.L158fs

c.472_473fs

1 paper

NM_006565.4

p.L158L

c.472C>T

1 paper

NM_006565.4

p.L158delFs

c.473delT

2 papers

NM_006565.4

p.P159S

c.475C>T

1 paper

NM_006565.4

p.I154V

c.460A>G

1 paper

NM_006565.4

p.P152P

c.456C>T

1 paper

NM_006565.4

p.P152L

c.455C>T

1 paper

NM_006565.4

p.G163delFs

c.489delG

3 papers

NM_006565.4

p.G163E

c.488G>A