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

2 papers

NM_006565.4

p.G335R

c.1003G>A

Surrounding Variants

2 papers

NM_006565.4

p.G335R

c.1003G>C

1 paper

NM_006565.4

p.G335Fs

c.1003delinsGAFs

3 papers

NM_006565.4

p.G335fs

c.1003_1004fs

1 paper

NM_006565.4

p.G335E

c.1004G>A

3 papers

NM_006565.4

p.G335delFs

c.1004delG

1 paper

NM_006565.4

p.E336K

c.1006G>A

3 papers

NM_006565.4

p.E336Q

c.1006G>C

3 papers

NM_006565.4

p.E336*

c.1006G>T

1 paper

NM_006565.4

p.E336A

c.1007A>C

1 paper

NM_006565.4

p.T333A

c.997A>G

1 paper

NM_006565.4

p.V332A

c.995T>C

1 paper

NM_006565.4

p.V338F

c.1012G>T