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.H345N

c.1033C>A

Surrounding Variants

3 papers

NM_006565.4

p.H345Y

c.1033C>T

2 papers

NM_006565.4

p.H345P

c.1034A>C

7 papers

NM_006565.4

p.H345R

c.1034A>G

1 paper

NM_006565.4

p.K344_H345delFs

c.1032_1033delAC

5 papers

NM_006565.4

p.K344E

c.1030A>G

1 paper

NM_006565.4

p.T346A

c.1036A>G

1 paper

NM_006565.4

p.T346S

c.1036A>T

3 papers

NM_006565.4

p.T346delFs

c.1037delC

1 paper

NM_006565.4

p.T346fs

c.1036_1037fs

4 papers

NM_006565.4

p.Y343*

c.1029C>A

2 papers

NM_006565.4

p.T346N

c.1037C>A

4 papers

NM_006565.4

p.Y343*

c.1029C>G